Genetics and genetics counseling

phenotype…..An organism's expressed physical traits, such as hair color or shape,

are called its ____ .

A version of a gene…….What is an allele?

heterozygous…..An organism that has two different alleles for a single trait is said
to be _____ for that trait.

Incomplete Dominance……..In this type of inheritance, one allele for a specific trait
is not completely expressed over its paired allele.

rr………..If red flower color (R) is dominant and white (r) recessive, a plant with
white flowers would have a genotype of ___ .

Two……In a dihybrid cross, organisms differ in how many traits?

9:3:3:1………In a dihybrid cross, what is the expected ratio in the F2 generation?

plants with all green peas……..A cross between true-breeding green and yellow
plants (green pea color is dominant) results in ...

independent assortment………Which principle states that allele pairs separate

independently during the formation of gametes?

all tall……..Two true breeding parents are crossed similar to Mendel's P generation.
A tall plant is crossed with a short plant. What is the expected outcome for the F1
generation?

3 tall, 1 short………If the cross from #1 is continued, what would be the expected
outcome in the F2 generation?

Rr…………If a plant that has round seeds has a parent that has wrinkled seeds,
what is its genotype? (Assume that round is dominant.)

principle of segregation………This principle states that alleles separate during

gamete formation:

half…………If you crossed two heterozygous plants, how many of the offspring will
also be heterozygous?
Pp x pp…….A plant that has purple flowers is crossed with one that has white
flowers. The offspring were half white and half purple. What were the genotypes of
the parents?

9:3:3:1………A dihybrid cross (AaBb x AaBb) will result in what offspring ratio?

physical appearance………Phenotype refers to an organism's:

dominance and recessiveness…………In each case where Mendel crossed true

breeding plants as parents, the offspring displayed only one of the two traits seen in
the parents. This observation supports which principle of genetics?

All offspring tall and round……….Which of the following outcomes would you
expect from the following cross: tall, round (TTRR) x short, wrinkled (ttrr)

A and B………….If a man has blood type O and his wife has blood type AB, what
blood types are possible among their children?

blood type………Which of the following is a trait that is controlled by multiple

alleles?

true-breeding varieties were scarce………….Advantages to using the garden pea

for Mendel's experiments included all listed below except

both parents were heterozygous purple…………In Mendel's F2 generation, one

out of four plants had white flowers because

formation of Barr bodies……..Mendelian inheritance may be difficult to analyze

because of all of the following except

1:2:1………..In the F2 generation, the 3:1 ratio is really a disguised

3:1………..The ratio often referred to the Mendelian ratio is

4:0…………….When Mendel crossed pure-breeding purple and white flowered pea

plants, the dominant to recessive ratio in the F1 generation was

X………..On which of the following chromosomes are sex-linked traits carried?

3:1……..In Mendel's F2 generation of the purple and white flower crossing, the
dominant to recessive ratio was

centimorgan……….The name for a chromosome map unit is

ww x WW………..Which of the following represents a testcross?

homozygous…………..A individual who has two of the same allele is said to be

WwSs………..Which of the following represents a dihybrid?

Ss………..Where two alternatives for a trait are tall and short, and tall is dominant,
the genotype of a heterozygous individual would be expressed

keeping records of numbers of different progeny……………Compared to

previous geneticists, the unique characteristic of Mendel's work was

9:7……..A modified Mendelian ratio is represented by

WW…………..The two alternatives for a trait are red and white and red is dominant.
However, white is the most common trait. What is the genotype of a homozygous
dominant individual?

broad……….Where the two alternatives for a trait are broad and narrow, and broad
is dominant, the phenotype of a homozygous dominant individual would be
expressed as

⅓…………..In garden peas, height is determined by a single gene with tall being
dominate to short. If two heterozygous plants are crossed, what proportion of the tall
progeny will be homozygous dominant?

none………In the cross MMnn x mmNN, what proportion of the resulting F1 would
be homozygous dominant for both genes?

1:1:1:1………….In humans pointed eyebrows are dominant to smooth eyebrows and

widow's peak (downward pointed frontal hairline) is dominant to continuous hairline.
What phenotypic ratio would you expect in the offspring from a cross between an
individual heterozygous for both genes and an individual homozygous recessive for
both genes?

All the sons have hypertrichosis, but none of their

daughters…………..Hypertrichosis, hairiness of the pinna of the ear, is inherited as
a Y-linked recessive in humans. If a man with hypertrichosis marries a normal
woman, what types of children may they have?

True…….The model for the dihybrid cross of heterozygotes predicts a phenotypic

ratio of 9:3:3:1.

True……….Epistasis is a genetic condition in which certain alleles of one locus can

alter the expression of alleles of a different locus.
True………..One gene can have multiple effects on an organism.

4 genotypes; 3 phenotypes………….The genotypes of a husband and wife are

IAIB x IAi. Among the blood types of their children, how many different genotypes
and phenotypes are possible?

Law of segregation………….A pair of alleles separates during the formation of

gametes

Law of independent assortment……….Alleles separate independently of one

another during the formation of gametes

Genotypic ratio…………Ratio of genotypes that appear in offspring

Phenotypic ratio…………..Ratio of phenotypes that appear in offspring

Test cross…………..Cross performed to determine the genotype of an unknown

organism

Complete dominance……….One allele is dominant over a recessive allele

Incomplete dominance………….Inheritance in which a heterozygous individual has

a phenotype that is between the homozygous phenotypes

Codominance………Inheritance in which both alleles are express in heterozygous

individuals

Sex-linked Trait………..Trait located on the sex chromosome

Autosomal Trait………Trait located on a non-sex chromosome

Carrier……….Individual who is heterozygous for a disorder or trait

Genetics…. the study of heredity

heredity….the passing of traits from one generation to the next

trait…a specific characteristic that varies from one individual to another

gene….sequence of DNA that codes for a protein and thus determines a trait

genome…the entire "library" of genetic instructions in DNA that an organism inherits

Gregor Mendel….father of genetics

allele….alternative form of a gene (one member of a pair) located at a specific

position on a specific chromosome (a letter)

dominant allele…an allele that produces the same phenotype whether its paired
allele is identical or different (capital letter)

recessive allele….an allele that produces its characteristic phenotype only when its
paired allele is identical (lowercase letter)

genotype…the combination of alleles located on homologous chromosomes that

determines a specific characteristic or trait (the allelic combination such as Bb)

phenotype….the observable physical or biochemical characteristics of an organism,

as determined by the genotype (the expressed trait such as brown eyes)

homozygous…term used to refer to an organism that has two identical alleles for
the same trait (ex. BB or bb)

heterozygous….term used to refer to an organism that has two different alleles for
the same trait (ex. Bb)

Punnett square…diagram showing the gene combinations that might result from a
genetic cross

gamete (sex cell)....specialized cell involved in sexual reproduction (sperm or egg)

probability….the possibility of different outcomes (percentage or ratio)

monohybrid cross….a one-trait cross (ex. color)

dihybrid cross…a two-trait cross (ex. color & shape)

P generation….parental generation is the first generation involving two individuals

that are mated to predict or analyze the genotypes of their offspring

F1 generation…first filial generation is the generation resulting immediately from a

cross of the first set of parents (P generation)

F2 generation…second filial generation is the generation resulting from a cross

between two F1 individuals
purebred….offspring that are the result of mating between genetically similar kinds
of parents; opposite of hybrid; same as true breeding

hybrid….offspring that are the result of mating between two genetically different
kinds of parents; opposite of purebred

Principle of Dominance….when individuals with contrasting traits are crossed, the

offspring will express only the dominant trait

Law of Segregation…states that allele pairs separate, or segregate, during gamete

formation

Law of Independent Assortment…..states that genes for different traits can

segregate independently during the formation of gametes

non-Mendelian inheritance….refers to any pattern of inheritance in which traits do

not segregate in accordance with Mendel's laws (ex. incomplete dominance,
codominance, multiple alleles, polygenic traits, sex-linked traits)

incomplete dominance…when one allele is not completely dominant over the

other, or blending occurs (ex. Red + White = Pink)

codominance….occurs when BOTH alleles of a gene are expressed in an individual

(ex. Black + White = Black & White Speckled)

multiple allele traits….traits that are controlled by more than two alleles (ex. ABO
blood typing = A allele, B allele, & O allele)

polygenic traits….a trait controlled by two or more genes; produce a wide range of
phenotypes

sex-linked traits….a trait genetically determined by an allele located on the sex

chromosome

pedigree chart….a diagram that shows the occurrence and appearance or

phenotypes of a particular gene or organism and its ancestors from one generation
to the next

chromatin….unraveled and long DNA (during interphase)

chromosome…..condensed, coiled, and shorted DNA (this occurs during mitosis

and meiosis)
chromatids….the two identical halves of a single replicated eukaryotic chromosome
and joined at the centromere

homologous chromosomes……chromosome pairs of approximately the same

length, centromere position, and staining pattern, with genes for the same
characteristics at corresponding places (one homologous chromosome is inherited
from the mother; the other from the father)

daughter cells…..new cells

mitosis……a type of cell division that results in two genetically identical daughter
cells each with the same number of chromosomes of the parent cell

meiosis……a type of cell division that results in four genetically different daughter
cells each with half the number of chromosomes of the parent cell (also known as
reduction division)

sexual reproduction…..process by which two cells from different parent unite to

produce the first cell of a new organism

asexual reproduction……process by which a single parent reproduces by itself

crossing over…….process in which homologous chromosomes exchange portions

of their chromatids during meiosis (also called gene shuffling)

genetic variation….genetic differences within a species

fertilisation….a process in sexual reproduction in which a sperm unites with an egg

to make the first cell of a new organism, or zygote

zygote….fertilized egg

somatic cell….body cell (non-sex cell)

haploid (N).....term used to refer to a cell that contains only a single set of
chromosomes and therefore only a single set of genes (Humans N = 23)

diploid (2N).....term used to refer to a cell that contains both sets of homolgous
chromosomes (Humans 2N = 46)

chromosomal mutation……mutation that affects the number or structure of whole

chromosomes
deletion chromosomal mutation….a mutation that involves the loss of all or part of
a chromosome

duplication chromosomal mutation……a mutation that produces extra copies of

parts of a chromosome

inversion chromosomal mutation…….a mutation that reverses the direction of

parts of a chromosome

translocation chromosomal mutation……a mutation that occurs when part of one

chromosome breaks off and attaches to a different chromosome

nondisjunction…..the most common error in meiosis and occurs when homologous

chromosomes fail to separate

trisomy……a condition in which an extra copy of a chromosome is present in the

cell nuclei, causing developmental abnormalities

polyploidy….condition in which an organism has extra sets of chromosomes

because a complete set of chromosomes failed to separate during meiosis (ex. 3N or
4N)

DNA fingerprinting…..an individual's unique sequence of DNA base pairs,

determined by exposing a sample of the person's DNA to molecular probes

genetic engineering…..the process of making changes in the DNA code of living

organisms

genetically modified organism (GMO)...one that has artificially acquired one or

more genes from the same or different species

plasmid…..circular DNA found in bacteria

recombinant DNA……DNA produced by combining DNA from different organisms

(DNA is cut out of one organism and recombined with another organism's DNA)

enzyme…..protein that speeds up chemical reactions in organisms

restriction enzyme…..DNA-cutting enzymes found in bacteria

biotechnology…..the use of living organisms or other biological systems in the

manufacture of drugs or other products or for environmental management, as in
waste recycling
karyotype…a picture of an organism's genome and can be used for chromosomal
anlysis

allele…Form of a gene. Each characteristic has two alleles.

recessive..…trait that will only appear in the phenotype if organism inherits two of
them; covered up by the dominant gene

adenine…....A base thats found in DNA. It will only bond with Thymine.

amino acid……Building blocks of protein

asexual reproduction……..Reproduction of identical offspring from a single parent.

No gametes involved

autosomes….Any chromosome other than the sex chromosomes.

base….One of four chemicals which make up the 'rungs' of DNA; A;T;C;G

base-pair…Two bases making each rung of DNA: either A-T or C-G

cell….The structural and functional unit of all living things

cell division….The formation of two or more daughter cells

chromosome….Thread-like structures bearing genes that are found in the nucleus

of a cell

characteristic….A distinctive inherited feature of organism

cloning….A process that produces identical genetic individuals

cytosine….A base pair found in DNA. It will only bond with Guanine.

DNA…..Deoxyribonucleic acid. A molecule found in the nucleus of cells which

provides an individuals genetic code

DNA replication….The process whereby DNA makes an exact copy of itself

dominant….An allele that controls the phenotype regardless of what the other allele
is

double-helix….a term used to describe the structure of DNA - a spiral ladder shape
fertilisation….The fusion of a male and female gamete to form a zygote

gamete…A sex cell. Ovum (egg) in females or sperm in males. Ovule and pollen in
plants.

gene…A length of DNA carrying the code for one feature

genetic code…the genetic information held in DNA

genotype…The combination of two alleles that an organism has for a particular

gene.

guanine….…A base that is found in DNA. It will only bond with cytosine

heterozygous…Having two different alleles for a particular gene; not true breeding

homozygous…Having two identical alleles for a particular gene; true or pure

breeding

inheritance…the passing on of traits from generation to generation through the

genetic code.

karotype…photograph of individual chromosomes of a cell arranged in pairs and

showing their number, size and shape

meiosis…The type of cell division that produces gametes. Occurs in the ovaries or
testes in animals.

mitosis..The type of cell division which produces identical daughter cells from one
parent cell.

mutation…A change in sequence of bases in the genetic code which is transmitted

to subsequent generations

nucleotide…A molecule containing a sugar-phosphate-base, found in DNA. These

bases pair to form DNA

offspring…New individuals formed by either asexual or sexual reproduction.

organism….An individual that is able to grow and reproduce

ovaries….The female organ that produces female gametes.

pedigree chart…A chart which shows how genes are inherited

proteins……Molecules that contain amino acids.

pollen…The male gametes of plants

Punnett square…A diagram used to predict the phenotype and genotype ratios of
offspring.

pure-breeding…Organisms that are homozygous for a trait.

recessive…An allele which is only expressed in the offspring if the dominant allele is
missing

selective breeding… process that is used to breed for specific required traits

semi-conservative replication….DNA replication which involving the DNA

unzipping and pairing up with new matching nucleotides forming two new DNA
molecules.

sex chromosome…….A chromosome that determines the sex of the individual

sexual reproduction…Reproduction involving the fusion of two gametes. Produces

variation in offspring

testes…The male organ that produces gametes

thymine……A base that is found in DNA. It will only bond with adenine.

trait…A feature whose appearance is determined by genes

triplet…A sequence of three nucleotides found on a DNA strand

variation…the difference between individuals

zygote…….A fertilised egg. A single cell containing chromosomes from male and
female gametes at the point of fertilisation.

Genetic Disorder…….a disease or disorder that is inherited genetically

Human Genome Project……….An international collaborative effort to map and

sequence the DNA of the entire human genome.

Single gene disorder……..Disease caused by a mutation within one gene

Autosomal dominant disorder……a disease caused by a dominant mutant gene
on an autosome

Autosomal recessive disorder……..only manifests clinically when both alleless at

a given locus on homozygous are defective

X-linked dominant disorder…….caused by dominant mutations in genes on the X

chromosome

X-linked recessive disorder……….Males are more frequently affected than

females, and the chance of passing on the disorder differs between men and women

Huntington's disease………genetically inherited condition characterized by

uncontrollable body movements and degeneration of the nervous system

Familial hypercholesterolemia………congenital metabolic disorder characterized

by high levels of cholesterol and early development of atherosclerosis

Sickle cell anemia……..a genetic disorder that causes abnormal hemoglobin,

resulting in some red blood cells assuming an abnormal curved shape

Cystic fibrosis……..inherited disorder of exocrine glands resulting in thick, mucous

secretions that do not drain normally

Phenylketonuria……..a genetic disorder in which the body cannot metabolize the

amino acid phenylalanine

Galactosemia………..a genetic disease in which an enzyme needed to metabolize

galactose is deficient or absent

Duchenne muscular dystrophy………A human genetic disease caused by a sex-

linked recessive allele; characterized by progressive weakening and a loss of muscle
tissue.

Hemophilia……..sex-linked recessive disorder defined by the absence of one or

more proteins required for blood clotting

Albinism……….a hereditary condition characterized by a partial or total lack of

melanin pigment

Turner's syndrome………..genetic disorder in which affected women have only one

X chromosome, causing developmental abnormalities and infertility.
Aneuploidy……….an abnormality involving a chromosome number that is not an
exact multiple of the haploid number (one chromosome set is incomplete)

Down syndrome……….abnormal number of chromosomes in somatic cells, a

congenital disorder caused by having an extra 21st chromosome

Klinefelter's syndrome………….a chromosomal trisomy in which males have an

extra X chromosome resulting in an XXy condition; affected individuals typically have
reduced fertility

Daltonism……………a sex-linked inherited disorder porducing color blindness

Diabetes…………A condition of abnormal use of glucose, usually caused by too

little insulin or lack of response to insulin

Nondisjunction………meiosis in which there is a failure of paired homologous

chromosomes to separate

chromosome anomaly…………atypical number of chromosomes or a structural

abnormality in one or more chromosomes.

Genetic disorder……………A disease or disorder that is inherited genetically

Congenital disorder………..Evolve during fetal development and is not related to

genetic malfunction

Birth defects………..Any disease or disorder present at birth, including genetic

conditions and other types of diseases, caused by a variety of factors

Genetic counselor………..An expert in human genetics who is qualified to counsel

individuals who may have inherited genes for certain diseases or conditions

Sickle Cell……………..A genetic disorder that causes abnormal hemoglobin,

resulting in some red blood cells assuming an abnormal sickle shape.

Cystic Fibrosis………A genetically inherited disease characterized by thickening of

secretions of ALL exocrine glands

Tay-Sachs………Inherited, progressive disease marked by degeneration of brain

tissue

Huntington's Disease…………….A human genetic disease caused by a dominant

allele; characterized by uncontrollable body movements and degeneration of the
nervous system; usually fatal 10 to 20 years after the onset of symptoms.
Muscular Dystrophy………….Group of inherited diseases characterized by
progressive weakness and degeneration of muscle fibers without involvement of the
nervous system

Hemophilia……………..A human genetic disease caused by a sex-linked recessive

allele resulting in the absence of one or more blood-clotting proteins; characterized
by excessive bleeding following injury.

PKU…………..A human metabolic disease caused by a mutation in a gene coding

for a phenylalanine processing enzyme, which leads to accumulation of
phenylalanine and mental retardation if not treated

Spina Bifida…………….A congenital defect of the spine in which part of the spinal
cord and its meninges are exposed through a gap in the backbone. It often causes
paralysis of the lower limbs, and sometimes a mental handicap.

Turner's Syndrome…………….A genetic defect in which affected women have only

one X chromosome, causing developmental abnormalities and infertility.

Williams Syndrome…………A neurobehavioral congenital disorder characterized

by delayed motor development, mild to moderate intellectual disability and notable
impairment in visual and spatial functioning.

Down Syndrome…………..A condition of retardation and associated physical

disorders caused by an extra copy of chromosome 21.

Cri-Du-Chat Syndrome………….Rare genetic disorder caused by missing part of

chromosome 5; named for characteristic cat cry; feeding problems, growth problems,
poor motor skills.

Klinefelter Syndrome……………A chromosomal disorder in which males have an

extra X chromosome, making them XXY instead of XY.

dominant…………describes a trait that is expressed (phenotype) both in

homozygous and heterozygous form

codominance……..…pattern of inheritance that corresponds to the equal, distinct,

and simultaneous expression of two different alleles (i.e., blood type)

incomplete dominance………..pattern of inheritance in which a heterozygous

genotype expresses a phenotype intermediate between dominant and recessive
phenotypes
complete penetrance………..all individuals who have the disease-causing mutation
have full clinical symptoms of the disease (i.e., one allele = full blown disease).

highly penetrant………..If an allele is highly penetrant, then the trait it produces will
almost always be apparent in an individual carrying the allele.

incomplete penetrance or reduced penetrance………….reduced or incomplete

when some individuals fail to express the trait, even though they carry the allele.

low (non) penetrance………..An allele with low penetrance will only sometimes
produce the symptom or trait. In these cases, it is difficult to distinguish
environmental from genetic factors.

Autosomal Dominant Inheritance General Assumption…………..Most affected

individuals are heterozygotes, and matings involve one partner with the autosomal
dominant trait and the other partner will be homozygous normal

Defective product of the gene……….is usually a structural protein, or a regulatory

protein or enzyme, but not an "ordinary" enzyme.

Defective structural proteins……………..structural proteins are usually defective

when one of the allelic products is non-functional.

Defective "ordinary" enzymes…………."ordinary" enzymes usually require both

allelic products to be non-functional to produce a mutant phenotype; they are, thus,
recessive.

25%...........1. When a set of parents has a child affected by an autosomal recessive

disorder, the most likely recurrence risk is

True……..2. New autosomal dominant disorder mutations in families in certain

conditions have been associated with increased age of the father.

affected families show excess of male offspring is 2:1……….20. The following

are true regarding X-linked dominant disorders EXCEPT

0%......... What is the risk for hemophilia A in the grandsons if their paternal
grandfather has hemophilia A?

True……19. Genetic disorders showing anticipation demonstrate increased severity

with future generations.
Autosomal dominant……... Which type of inheritance pattern occurs in a genetic
disorder in which the phenotype appears in every generation, the normal family
members transmit the gene to their offspring, and males and females are equally
affected?.

False…..18. An example of co-dominance is the ABO blood group.

.impaired pulmonary function……….. In Duchene muscular dystrophy, the median

age of survival is 18 with most patients dying of

True…………•17. Inheritance can explain conditions like baldness and gout.

2.25%........ For a couple who have produced one child with cystic fibrosis, the risk
for developing the disease for each subsequent child is

false……..•16. Any tissue with mitochondria can be affected by mitochondrial

disease.

Autosomal recessive ………•7. The newborn screen assesses primarily for

metabolic and hemoglobinopathies disorders that are considered

True……….•15. A portion of individuals with a mutated gene show no signs and

symptoms of the disorder.

Maternal side………8. Mitochondrial disorders are inherited by

Consanguinity………•14. If an aunt has children with her nephew, which of the

following terms is used to describe the relationship?

X-linked recessive………•9. Which of the following traits are never transmitted from
the father to son?

True………….•13. Few genes are known to be located on the Y chromosome and

inherited from father to son.

.genotype; phenotype…………•10. While genetic testing can identify the genetic

composition of an individual, the may not be able to accurately determine what a
person actually will look like; however, the can.

100%..............•12. For an autosomal dominant disease, if two affected parents have

a child, what is most likely the risk of passing on the disorder?
1.autosomal dominate. 2.autosomal recessive………11. Mendelian Inheritance
patterns include

Prader-Willi syndrome………•1. Which one of the following genetic disorders is an

example of imprinting?

Autism………•2. Which one of the following symptoms is associated with Fragile X?

Autosmal recessive ………•3. The newborn screen assesses primarily for

metabolic and hemoglobinopathies disorders that are considered

The mutation is present in all of the germline cells…………..•4. All of the

following describes mosaicism EXCEPT

Autsomal recessive …………•6. Consanguinity is an important issue in which

inheritance pattern?

.Mitochondrial inheritance………..•7. Which type of Mendelian inheritance is never

transmitted from father to son? (Select all that apply.)

mental retardation………..•8. All of the following characteristics describe

osteogenesis imperfect EXCEPT

Anemia………•9. Maple syrup urine disorder and PKU are inborn errors of
metabolism, and if undiagnosed can cause all of the following EXCEPT

Congenital hypothyroidism and PKU……….What are the 2 autosomal recessive

disorders mandated in 50 states to screen in the newborn screen at 48 hours of life?

X-inactivation……………A process that can greatly affect the presentation of an X-

linked phenotype in carrier females is

All of the above………….Which of the following is true about mitochondrial

inheritance?

SITUATIONAL :

There is 50% chance of transmission…………..•12. A mom discovered that she is

pregnant with a male child. There is a maternal family history of factor VIII
hemophilia (X-linked recessive disorder). What will you tell this patient regarding
genetic transmission?
True………….19. Anticipation is a finding in a genetic disorder in which the severity
of a phenotype increases and age of onset decreases as some genetic disorders are
passed through families.

.It is the most common hereditary cause of mental retardation…………•13. Which of

the following characteristics of Fragile X is true?

False…………•18. Autosomal dominant conditions are due to loss of a genetic

function or deficiency of an enzyme in the metabolic pathway, which often presents
early on in the newborn period.

Cataracts and axillary freckling………..•14. The physical exam of a 6-year-old

identifies seven smooth-bordered, light brown lesions measuring > 0.5 cm and
irregular. To confirm neurofibromatosis, what other physical findings should be
present?

Germline mosaicism in one of the parents…………..•17. What is the most likely

explanation for a set of unaffected parents having two children with a highly
penetrant, autosomal dominant disorder? (Select all that apply.)

Rett syndrome…………•15. Which of the following is an X-linked dominant

condition?

.Variable expressivity………….•16. Which of the following terms refers to the fact

that different people with the same genotype can have variety in phenotype?

You are both carriers, so each baby has a 25% chance of being
affected………………………….A father and mother are carriers of phenylketonuria
(PKU). Their 2-year-old daughter has PKU. The couple tells the nurse that they are
planning to have a second baby. Because their daughter has PKU, they are sure that
their next baby wont be affected. What response by the nurse is most accurate?

Discuss options with the couple, including amniocentesis to determine

whether the fetus is affected…………..The nurse is providing genetic counseling
for an expectant couple who already have a child with trisomy 18. The nurse should:

Both genes of a pair must be abnormal for the disorder to be

expressed………….The nurse is assessing the knowledge of new parents with a
child born with maple syrup urine disease (MSUD). This is an autosomal recessive
inherited disorder, which means that:

Denial of insurance benefits…….In presenting to obstetric nurses interested in

genetics, the genetic nurse identifies the primary risk(s) associated with genetic
testing as:
Predictive testing……A mans wife is pregnant for the third time. One child was
born with cystic fibrosis, and the other child is healthy. The man wonders what the
chance is that this child will have cystic fibrosis. This type of testing is known as:

Approximately 20,000 genes make up the genome……A key finding from the
Human Genome Project is:

Interrupted family processes……You are a maternal-newborn nurse caring for a

mother who just delivered a baby born with Down syndrome. What nursing diagnosis
would be the most essential in caring for the mother of this infant?

Karyotyping will provide information about the gender of the baby and the
number and structure of the chromosomes………..A couple has been counseled
for genetic anomalies. They ask you, What is karyotyping? Your best response is:

The most important of all nursing functions is providing emotional support to

the family during counseling……..In practical terms regarding genetic health care,
nurses should be aware that:

Maternal serum screening can determine whether a pregnant woman is at risk

of carrying a fetus with Down syndrome…….With regard to prenatal genetic
testing, nurses should be aware that:

The risk factor remains the same no matter how many affected children are
already in the family………With regard to the estimation and interpretation of the
recurrence of risks for genetic disorders, nurses should be aware that:

Genotype……..The nurse must be cognizant that an individuals genetic makeup is

known as his or her:

Communication….Genetic Counseling is a _____ that deals with ____

Nondirective….skill of the counselor that enables clients to reach the decision that
is, for them, the right one

Nondirective…Genetic counseling should always be

B. medical professional ,C. certified genetic …..providers of counseling are

35+, be tested…Women ___ should___

40+, be tested…Men ___ should____

third trimester pregnancy….Genetic counseling is NOT recommended for people
with

family history, physical-exam/blood-test/ amniocentesis……..Genetic

counseling starts with recording ___, and ____/____/______

balance patient risk/benefit…….Genetic counseling should

a 35-year-old male who has hemophilia……Which individual is most likely to

benefit from consulting a genetic counselor?

Yes, she will be a carrier of hemophilia……..The pedigree below shows the

inheritance of hemophilia, a recessive X-linked disorder, in a family.Suppose that
individuals 7 and 8 are pregnant with another daughter. Can you tell in advance
whether she will be a carrier or will have the disease?

to develop family pedigrees and inform clients of possible options……Which of

the following best explains the role of a genetic counselor?

cat 4 or 5……..Polydactyly, having extra fingers or toes, is an autosomal dominant

disorder that occurs in cats as well as in humans. A cat breeder collects information
about her cats and makes the pedigree below.If the breeder wants to select a mother
cat to produce a litter of kittens without polydactyly, which cat could she choose?

Hospitals are required to screen all newborn babies for PKU……

Phenylketonuria, or PKU, is a recessive genetic disorder in which the amino acid
phenylalanine cannot be properly metabolized. Children with PKU develop mental
disabilities. However, the condition can be prevented with a special diet if the
disease is caught very early. Which of these is a societal decision that could be
made based on scientific knowledge about PKU?

explains genetic disorders…….A genetic counselor is someone who

learning the likelihood of passing a genetic disorder on to children……Which is

a benefit of genetic counseling?

vision testing….Which is a genetic counselor least likely to recommend for a client

who has been unable to become pregnant?

couples who are planning to have children……Genetic counselors work mostly

with
1/100……A couple is seen for preconception counseling. The woman's brother has
Gaucher disease, and she has Ashkenazi Jewish ancestry (Gaucher disease
incidence of 1 in 1,000). Before doing any genetic testing, which of the following is
closest to the risk of the couple having an affected child?

Missense mutation in EDA1…….You are meeting a 3 year old little boy in the
pediatric genetics clinic. His parents were referred to the clinic by his astute dentist
who mentioned he did not have as many teeth as expected. On meeting the boy, you
also note he has sparse hair. His parents also tell you he tends to get overheated
when he plays outside. Based on these findings, what is the most likely genetic
cause of his signs and symptoms?

Countertransference…….A genetic counselor in the ophthalmology clinic is

meeting with a family who have a 12 year old son recently diagnosed with retinitis
pigmentosa. Throughout the appointment, the patient's father makes disparaging
remarks about blindness and his son being handicapped. The genetic counselor
finds herself to be annoyed and angry with the father. The genetic counselor has a
good friend with RP and she can't help but think about him as she talks with the
family. What best describes the behavior and feelings of the genetic counselor?

12.5%.....You are meeting with a 30 year old woman to discuss a family history of
reported Alport syndrome. She is hoping to start a family in the near future and
wishes to know her risk to have a child with the condition. After taking the family
history, you notice that only males are affected and there is no male-male
transmission. The patient's maternal uncle is affected. Based on this family history,
what is the highest recurrence risk you would quote for this patient to have a child
with Alport syndrome?

Lisch nodules……A 12 year old female is referred to genetics after her PCP finds 5
café au lait spots on physical exam. She also has freckling in her armpits. Which of
the following clinical findings would be most helpful for diagnosing her?

If she has ocular telangiectasias……A 15 year old female is referred to genetics

for ataxia. Which of the following clinical findings would be most helpful for
diagnosing her?

Germline mosaicism…….A 1 year old girl is referred to pediatrics clinic due to a

skin rash that began as many blisters and slowly changed. It not appears as
hypopigmentation that follows the lines of blaschko. After taking the family history
you find that she has an 11 year old paternal half sister who presented with the same
symptoms as an infant. She currently has hypo and hyperpigmented skin, problems
with her eyes and a learning disability. What is the most likely pattern of inheritance
in this family?
All of their sons will be unaffected……..You are seeing a 25y pregnant patient
whose partner has renal disease, anterior lenticonus, and a COL4A5 pathogenic
variant. They want to know about the risks to their children. Which of the following is
a true statement:

Males with Fabry can reproduce……..In certain X-linked conditions, 1/3 of isolated
males (i.e., no family history) are de novo, while 2/3 have mothers who are
unaffected carriers. Which of the following conditions does this NOT apply to?

6.25%; 3.125% ……You are seeing a couple for preconception counseling and the
family history is remarkable for consanguinity. They are aware of the potential
increased risks for autosomal recessive conditions and birth defects and have done
additional reading on the topic to prepare their questions for this visit. They want to
know (a) how closely they are related and (b) the probability that their offspring will
inherit two copies of an allele that are the same (IBD). They are half-first cousins.

½……..You are seeing Susie and her partner for a prenatal genetic counseling
appointment. Susie and her partner are overall feeling low stress about the
pregnancy but want to learn more about their risks because of Susie's family history
of DMD. Susie had an uncle who passed from DMD and has no other maternal aunts
or uncles. Susie has three unaffected sons and is currently pregnant with a boy.
Susie said her mother never had genetic testing, but Susie did and is a carrier of
DMD.
What is the chance that this pregnancy will have DMD?

Hb-Bart Syndrome……You are meeting with a patient who has a family history of a
hemoglobinopathy. In gathering the family history, you learn that the patient is a poor
historian and communication in the family hasn't been great. However, the patient
tells you that her sister's baby was affected during pregnancy with ultrasound
findings that prompted the initial testing. The most likely diagnosis is:

No further testing is needed as this infant does not have SCD………….An infant
screens positive on NBS for sickle cell anemia. Upon further hemoglobin analysis,
she is found to have significant levels of HbS on hemoglobin assay but no detectable
levels of an abnormal beta globin chain variant. Based on these tests, which of the
following is not a possible next
step

Telling your prenatal patient that you are uncomfortable proceeding and refer
her on to your colleague, helping to establish the relationship………You
previously (3 yrs ago) saw a patient whose father and maternal grandmother had
HD. After counseling your patient decided that he did not want to go through with
predictive testing. Since switching practice areas in your hospital, you are now
scheduled to see a patient this afternoon who is 10 weeks pregnant and would like to
discuss with you her husbands family history of HD. You tried to reach her earlier in
the week to get more information, but were unsuccessful. When she arrives you
notice she is alone and throughout the session you learn, go figure!, that her
husband was previously your patient. The mother of the baby is now concerned
about the pregnancy and would like to have prenatal testing, citing that her husband
has given her written permission to have the test, but can't take off work for any
appointments. Concerned about acting ethically, which of the following proceedings
would be best supported by NSGC Code of Ethics:

Non maleficence… …….A 7 year old female patient is referred to genetics clinic
due to short stature. You discuss genetic testing with the family, the benefits,
limitations and risks. When you describe how they do the test (a blood draw) the
patient starts sobbing uncontrollably. The parents tell you that she is terrified of
needles and has recently started therapy due to this fear and the psychological
impact of having blood draws and shots at the doctors office. You and the family
decide together to delay the testing until such a time when she is more emotionally
prepared. What ethical principle does this decision represent?

This child has a strong family history of sickle cell anemia and his parents are
concerned because he is about to start high school basketball……………In
which of the following scenarios would you offer genetic testing for a healthy 12 year
old male child?

Carrier screening for the women and her partner simultaneously…………A 32

year old woman who is 15 weeks pregnant comes to clinic with her partner for carrier
screening. Which of the following testing options do you do?

Less than 1%...........You are meeting with a couple for preconception counseling.
They have a 6 year old son with Prader Willi syndrome. They have waited to have
more children because they have been anxious about recurrence risks for Prader
Willi. What is the most likely recurrence for Prader Willi?

Giving advice………….You are meeting with a couple to discuss the positive results
of their NIPT screening. After describing the results and possible options, the couple
is in conflict on whether or not to have an amniocentesis. You tell the couple, "I
would encourage you to continue this conversation at home, look at both of your
opinions about this, and take some time to reach a decision." Your statement can be
best described as:

II. Karyotype
III. CF carrier screening
IV. SMA carrier screening……………You are seeing a couple for preconception
counseling who are first cousins. They have a history of three miscarriages.
Otherwise, the family history is noncontributory and they are both of Northern
European ancestry. You offer the couple:

If the couple both test negative with the carrier panel, there is a residual risk
for cystic fibrosis in their current pregnancy……………You are meeting with a
couple of Northern-European ancestry who are expecting their first child. You
discuss carrier screening for cystic fibrosis using a panel of common mutations.
What is the most important information the couple should know about carrier
screening for cystic fibrosis?

Acknowledge the patient's situation, and refer her for psychological services
before proceeding………..A 26-year-old woman comes for genetic counseling for
presymptomatic testing for Huntington disease (HD). Her psychiatrist has told the
genetic counselor that the woman has an unstable living situation and is showing
signs of depression. The woman told the psychiatrist that "she has no one." The
woman is very emotional when she arrives at the counselor's office and demands
HD testing. Which of the following is the BEST way to proceed with the session?

Confirmatory DNA testing of her mother is needed…………………A 30-year-old

woman comes for genetic counseling to discuss her recent presymptomatic testing
for Huntington disease (HD), which was negative. Her mother was diagnosed with
HD at age 36, and her deceased maternal grandmother was diagnosed with HD at
age 40. Neither had DNA testing. Which of the following is the MOST important next
step to discuss with the woman?

nondirective counseling………….A pregnant woman is undecided about pursuing

invasive testing. She asks, "If I were your wife, what would you tell me to do?" The
counselor replies, "I don't know what I would do, but I do know what concerns I
would think about." Which of the following techniques BEST describes this
response?

hereditary non-polyposis colorectal cancer…………A 43-year-old woman seeks

genetic counseling because of a recent diagnosis of endometrial cancer. Her family
history includes a maternal grandmother with breast cancer at age 56, father with
colorectal cancer at age 47, and one paternal aunt with ovarian cancer at age 49.
Counseling regarding testing for which of the following syndromes is MOST
appropriate?

1/250………..DNA testing for cystic fibrosis (CF) in a 25-year-old Caucasian woman

is negative. The test is able to identify 90% of CF carriers. The chance that the
woman is a carrier is closest to
"Her maternal grandmother went through menopause early.".............A 4-year-
old girl is referred to the genetics clinic to be evaluated because she may have
fragile X syndrome. During the appointment, the patient's mother provides
information on the family history. Which of the following statements about her
daughter's family history is MOST suggestive of fragile X syndrome?

maternal symptoms of hyperammonemia………A pregnant woman whose son

has ornithine transcarbamylase (OTC) deficiency comes for genetic counseling. A
detailed ultrasound at 18 weeks shows a normal female fetus. Which of the following
is the MOST important information to collect to assess risk in the current pregnancy?

Ask the father about the scar on his lip, explaining that this information is
essential for risk assessment………………A couple comes for genetic counseling
because of advanced maternal age. The counselor notes that the father has a large
vertical scar on his upper lip. While taking the family history, the counselor asks both
individuals if either has a history of birth defects, and they deny any such history.
Which of the following is the BEST next step for the counselor to take?

karyotype results on the child………….A woman is referred for genetic

counseling. Her son died at the age of 3 weeks with the following findings:
holoprosencephaly, cleft lip and palate, and polydactyly. Her doctor has referred her
for genetic counseling to discuss implications for future pregnancies. Which of the
following additional information will be MOST helpful to determine the recurrence
risk?

Request an IRB waiver of consent to share de-identified data……………A

genetic counselor is the research coordinator of a large study that collects DNA
samples from families. The database includes clinical information, family history, and
mutation status. A group of researchers conducting a similar study requests access
to the research information; however, no mention of sharing information was
included in the consent form. Which of the following actions is needed before
releasing the information in the database?

interject the information and prompt the student to continue……….A genetic

counselor is supervising a second-year genetic counseling student in a pediatric
clinic. During the appointment, the student leaves out an important piece of
information. In a positive co-counseling environment, the MOST appropriate
response by the supervisor is to

the plan for the session and if the patient has other concerns to
discuss……..When contracting with a patient at the beginning of a genetic
counseling session, which of the following should the genetic counselor address
FIRST?
"Does he look different from other family members?".........5 yo boy with
intellectual disability is referred for genetic evaluation. Family history reveals that his
mother has a 30-year-old maternal uncle whom she describes as "slow." Which of
the following questions about the uncle should the genetic counselor ask FIRST to
help assess the relevance of this history?

Acknowledge her anger and ask her to elaborate on her reaction………………A

couple comes for preconception genetic counseling because the woman had
bilateral retinoblastoma. The husband asks about his wife's risks for developing the
non-ocular cancers associated with this disease. The genetic counselor invites the
woman to answer in an attempt to assess her level of understanding and perception
of risk. She responds in anger, "Do you mind not talking about this?!" Which of the
following is the MOST appropriate response by the counselor?

MSH2……….A 44-year-old man with colon cancer comes for genetic counseling. He
has no family history of cancer. His pathology report indicates that his tumor is
MSIHigh. During the pre-authorization process, the genetic counselor learns that the
patient will have to pay for follow-up molecular testing out of pocket and can afford
testing for only two genes. In addition to MLH1, which of the following genes should
be tested to identify the causative mutation?

Reassure her that the risk for FAS is not increased given the timing of the
exposure………… A 32-year-old pregnant woman is referred for genetic counseling
at 6 weeks gestation because of alcohol exposure. She explains that she drank
several alcoholic beverages daily for one week during her honeymoon 4 weeks ago.
She
expresses concern that this exposure will cause fetal alcohol syndrome (FAS).
Which of the following is the BEST response to this patient?

2%...........A 50-year-old woman tests negative for a familial mutation in the BRCA1
gene. She plans to discuss ovary removal with her gynecologist because she
believes her risks are still high. The genetic counselor should clarify that the
woman's lifetime risk of ovarian cancer is closest to

high free beta hCG, low PAPP-A, nuchal translucency greater than 3
mm………..Which of the following first-trimester screening patterns is most
suggestive of trisomy 21?

steroid sulfatase deficiency……….A 25-year-old pregnant woman comes for

genetic counseling. Her screening results are positive for an increased risk for Smith-
Lemli-Opitz (SLO) syndrome
. 0%,...... 28-year-old pregnant woman comes for genetic counseling because the
father of her female fetus has a diagnosis of NARP. The risk that this fetus has
inherited this condition is closest to which of the following percentages?

1%..........A couple comes for genetic counseling because their newborn son has an
abnormal karyotype (46XY, i(21)(q10)). The father has an unaffected son, the
mother has an unaffected daughter). The woman is 39 years old and her husband is
41 years old. Which of the following is closest to the recurrence risk for the
condition?

Gaucher disease………..A 35-year-old Jewish woman of Russian and Polish

ancestry is referred for genetic counseling for ethnic-based carrier testing. She is
MOST likely to be a carrier of which of the following conditions?

chromosomal microarray………….A 5-year-old girl is referred to the genetics clinic

for evaluation of dysmorphic features and developmental delay. She has fair skin,
microcephaly, a prominent jaw, and a wide-based gait. She has had seizures since
she was 6 months old, walked at 23 months, and has no speech. Family history is
non-
contributory. Which of the following evaluations is MOST likely to establish the
diagnosis?

Velocardiofacial syndrome…………..Which of the following conditions warrants

patient resource materials written to a lower than average literacy level?
.Inquire about how the patient has made difficult decisions in the past…………..A 38-
year-old woman comes for genetic counseling because of an abnormal first trimester
screen with an increased risk for fetal Down syndrome. She listens to the genetic
counselor explain the additional prenatal testing and screening options, and at the
end tells the counselor, "I don't know what I should do." Which of the following is the
BEST way for the counselor to approach this situation?

OTIS…………. 40-year-old pregnant woman comes for genetic counseling. She

tells the genetic counselor that she has been taking paroxetine for an anxiety
disorder and is concerned about the effects of this drug on the fetus. Which of the
following resources is BEST to determine the risk to the fetus?

escape-avoidance………..A 40-year-old woman with Li-Fraumeni syndrome comes

for genetic counseling after testing confirms that she has a TP53 mutation. Her
asymptomatic 18-year old son is also found to have the same mutation. The mother
repeatedly suggests that gene therapy should be available soon to repair the gene
for her son and that perhaps his test should be repeated in case there was a mix-up
at the laboratory. The mother is exhibiting which of the following coping styles?
Recommend CFTR deletion/duplication testing…………A couple returns for
genetic counseling to discuss their genetic test results for cystic fibrosis (CF). Their
daughter had an abnormal sweat test and CFTR sequencing that identified one
known mutation and one variant of unknown significance (VUS). Parental testing
revealed that both the mutation and VUS were maternally inherited. Which of the
following should the genetic counselor do next?

chromosome deletion………….A 2-month-old boy with failure to thrive is seen in

the genetics clinic for evaluation and counseling. He has poor suck, and his parents
have to wake him to feed during the night. He has hypotonia and genital hypoplasia.
Which of the following mechanisms is the MOST likely cause of this condition?

"Tell me more about how you have been feeling before and during the
pregnancy."................A woman is seen for prenatal genetic counseling due to an
abnormal maternal serum screen. The counselor notes that the patient is frequently
tearful and seems to have trouble concentrating. The patient says that she, "Just
can't sleep." Which of the following is the BEST initial response from the counselor?

Reschedule the appointment when a professional interpreter is

available………………A 41-year-old pregnant Vietnamese woman at 15 weeks
gestation comes for genetic counseling prior to amniocentesis. She speaks very little
English and has brought her husband with her to act as an interpreter. The hospital's
Vietnamese interpreter is not currently available. Which of the following is the BEST
action by the genetic counselor?

intellectualization……….During a genetic counseling session, a 27-year-old

woman is informed that she has a BRCA1 gene mutation. The woman does not
seem distressed. She asks detailed questions about the molecular nature of the
mutation, the cancer risks associated with the BRCA1 mutation, and the medical
management options. She uses correct genetic and medical terminology such as
"autosomal dominant Mendelian inheritance," "protein truncation," and "stop codon."
This patient appears to be coping with the genetic test results using which of the
following defense mechanisms?

"How has this situation been isolating for you?".........A woman comes for
genetic counseling to discuss the prenatal diagnosis of trisomy 21 by amniocentesis.
She says that she feels "very alone" with this diagnosis. Which of the following is the
genetic counselor's BEST initial response?

1/150………..A non-consanguineous Caucasian couple is referred for genetic

counseling. The woman's brother died of cystic fibrosis (CF). The risk for the couple
to have a child with CF is closest to
Parkinson disease……….A 50-year-old man has 120 CGG repeats in the FMR1
gene. He is at risk to develop symptoms that could be mistaken for

"What medications were you prescribed, and when did you stop taking
them?"......................A newborn male with hydrocephalus, microtia, and a
ventricular septal defect is referred to the genetics clinic. His mother had been
treated for cystic acne, but she reports that she stopped taking all medicines when
she learned she was pregnant. When obtaining the pregnancy history, which of the
following is MOST important to ask?

countertransference……..A 28-year-old man with Klinefelter syndrome is referred

for genetic counseling. He calls the genetic counselor several times with questions.
The man's voice and personality are similar to the counselor's brother. She finds it
easy to talk to him and enjoys his questions. She realizes her calls with him are
taking longer than they should. Which of the following BEST describes this situation?

stomach cancer………A 35-year-old healthy woman comes for genetic counseling

for cancer risk assessment. Her mother died with breast cancer at age 43. Two
maternal aunts and one maternal uncle are all cancer-free. Her maternal
grandmother had stomach cancer in her 60s. The consultant's father is healthy at 55.
The father's siblings are cancer-free, but his brother's daughter was diagnosed with
cervical cancer in her 30s. The consultant's paternal grandfather had colon cancer in
his 60s. Pathologic confirmation of which reported cancer will have the largest
impact on the risk assessment for this consultant?

Forward her request to the compliance officer………..A woman who is seen for
genetic counseling contacts the genetic counselor after the session. She states that
she wants her history of two prior elective abortions removed from her medical
record. After acknowledging her request, which of the following is the BEST
response by the counselor?

McCune-Albright syndrome………….A 3-year-old girl is referred for a genetic

evaluation. Her medical record states that she has several large café au lait spots,
multiple long-bone fractures, and recent onset of menstrual bleeding. Which of the
following is the MOST likely diagnosis?

diabetes………A 33-year-old woman who is 20 weeks pregnant is referred for

genetic counseling. Fetal ultrasound showed caudal regression. Which of the
following conditions is the woman MOST likely to have?

Explain that she and all of her children are at risk………………A 25-year-old
woman comes for genetic counseling due to her family history of SCA type III. She is
interested in preimplantation genetic diagnosis (PGD). She states that she will only
have female embryos implanted because she does not want any of her children to
have the condition. Which of the following is the BEST way to counsel the patient?

Report the information to child protective services or the local police

department…………………… 38-year-old woman comes for genetic counseling
because of advanced maternal age. The genetic counselor asks the patient about a
cast on her arm. She states that her husband threw a chair at her in a fit of rage. The
genetic counselor explores this further. The patient tells her that her husband has
been abusive in the past, and she is afraid for their children. The patient believes the
injury was her fault since she provoked her husband's anger. The counselor
suggests that the patient speak with a social worker, but the patient declines. Which
of the following is the MOST appropriate action by the counselor?

"I can arrange for you to talk with people in a similar situation."..............The
parents of a child newly diagnosed with complete androgen insensitivity come for
genetic counseling. The genetic counselor tells the parents it is common practice to
remove the streak gonads. The mother asks, "Do you think that we should agree to
this?" Which of the following is the BEST response by the counselor?

dystrophin deletion/duplication analysis followed by sequencing……….A 4-

year-old boy is referred to a genetics clinic because he has calf hypertrophy and
trouble rising from the floor when seated. His creatine kinase level is 10,000 U/L.
Which of the following is the BEST initial method to determine his diagnosis?

….3-5%.........A couple seeks counseling because their first child was born with a
ventricular septal defect. There is no family history of any congenital heart disease,
and the parents have normal cardiac examinations. They should be counseled that
the risk that a subsequent child will have a similar or other cardiac defect is closest
to

comprehensive germline large rearrangement analysis of BRCA1 and

BRCA2…………………A 60-year-old woman who was diagnosed with breast cancer
at age 36 and ovarian cancer at age 50 is being seen for genetic counseling. Her
mother was diagnosed with breast cancer at age 55; a maternal aunt was diagnosed
with ovarian cancer at age 60; and a maternal first cousin was diagnosed with
leukemia at age 20. The proband underwent comprehensive germline sequence
analysis of BRCA1 and BRCA2 at the time of her ovarian cancer diagnosis with
negative results. Which of the following additional genetic tests would be MOST
appropriate for the proband to have?
Ask the father about his motivation for requesting genetic testing of his
daughters……man comes for genetic counseling with his two daughters, ages 12
and . Their mother died of breast cancer at age 39 and had a BRCA1 mutation. The
father wants his daughters to be tested for the mutation. Which of the following is the
BEST next step by the genetic counselor?

isovaleric acidemia………..A 25-year-old woman comes for genetic counseling at

12 weeks gestation because her sister recently had a baby girl with a "metabolic
condition." She was told that her niece has recurrent vomiting, seizures, and smells
like "sweaty feet." The niece was born overseas, medical records cannot be
obtained, and the woman is estranged from her sister. The genetic counselor should
look for laboratories that offer carrier testing for which of the following conditions?

consultant…………When a supervisor and his student work collaboratively on a

project with mutually agreed-upon objectives and the focus is on the student's
clients, which of the following roles is the supervisor using?

explain the importance of obtaining family history information…………A couple

schedules an appointment to bring their 5-year-old son with autism to the genetics
clinic to discuss genetic testing. The genetic counselor calls prior to the visit to obtain
a family history. The couple is reluctant to discuss details and asks why this
information is needed, since they only want to do testing. The BEST next step would
be for the counselor to:

hemochromatosis…………A 40-year-old man is referred to the genetics clinic by

his internist. He has chronic fatigue, joint pain in his hands and neck, and type 2
diabetes. Complete blood count, thyroid function studies, and lipid profiles are within
the normal ranges, but serum ferritin levels are increased. Which of the following is
the MOST likely diagnosis?

the age at which the uncle began having symptoms of HD……….A 30-year-old
man is scheduled for genetic counseling because his maternal uncle recently died
with Huntington disease (HD). The man's mother died in a car accident at age 25.
Which of the following should the genetic counselor ask to BEST assess the patient's
risk of developing HD?

hemoglobin electrophoresis and iron studies on the woman……….A 38-year-

old African American woman comes for genetic counseling at 10 weeks gestation.
She is not accompanied by her partner. She has a low mean corpuscular volume.
Which of the following is the BEST next step for the genetic counselor to
recommend?
….. ⅕…...The father and paternal grandfather of a 44-year-old asymptomatic
woman both died of Huntington disease (HD). Approximately 75% of people who
have the expanded allele for HD show clinical signs of the disease by age 44. What
is the woman's risk for HD?

Consult with the ethics review board regarding the best course of
action……….A 25-year-old pregnant woman comes for genetic counseling and
amniocentesis because her father had Becker muscular dystrophy (BMD).
Ultrasonography shows a male fetus. Her father's mutation is known. Test results
show that neither the woman nor her fetus carries the BMD mutation. The woman is
not aware that her father is not her biological father. Which of the following is the
BEST course of action for the genetic counselor?

incontinentia pigmenti syndrome…….A 3-year-old girl comes for genetic

evaluation because of developmental delay and irregular brownish whorls on her left
leg. Her mother reports that the skin discoloration was first noted at about 2 months
of age and that tooth eruption was delayed. The MOST likely diagnosis is

20%.......A woman comes for genetic counseling because of a family history of

"muscle disease." She has two teenage sons who appear healthy. Her 48-year-old
maternal uncle is barely ambulatory. Her sister's 17-year-old son has muscle
weakness and a serum creatine kinase level greater than 5000 U/L. No other family
members are known to be affected. The woman's two sons have creatine kinase
testing, and they both have levels less than 150 U/L. What is the woman's risk to be
a carrier for the condition in her family?

Discuss her emotional response…….A 37-year-old woman is referred to the adult

genetics clinic to be evaluated for Ehlers-Danlos Syndrome (EDS) because she has
a personal history of hypermobile joints, fibromyalgia, and inflammatory bowel
disease. When the counselor is taking the family history, the woman says, "All these
questions aren't important! What does this have to do with me?" Which of the
following is the genetic counselor's BEST next step?

CDKN2A……..A 45-year-old man is referred for genetic counseling because he has

pancreatic cancer. Review of his medical record indicates that he also had a
melanoma. He is MOST likely to have a mutation in which of the following genes?

Ask the couple what they understand about their child's condition……..A
couple comes for genetic counseling because their child has a rare chromosome
abnormality. Which of the following is the BEST first step?

ophthalmologic evaluation…..A 12-year-old girl is referred for a genetic evaluation

to rule out a syndrome after having been diagnosed with colon polyps. The abnormal
results of which of the following would be MOST supportive of a diagnosis of familial
adenomatous polyposis?

no treatment……A couple comes for genetic counseling because their daughter has
congenital adrenal hyperplasia (CAH). Which of the following should be
recommended for future pregnancies?

cloverleaf skull….28-year-old female is seen by a genetic counselor during her

second pregnancy because she reports that her first pregnancy was diagnosed with
thanatophoric dysplasia. No records are available to confirm this. In order to
substantiate the diagnosis, it is BEST to ask whether the fetus had which of the
following in addition to shortened limbs?

refer the family to the study coordinator…..All testing has been negative in a 5-
year-old female with multiple congenital anomalies and intellectual disability. The
child's parents are interested in enrolling their daughter in a research study to
investigate potential genetic causes. The consent forms are available from the
research study's website. The BEST next step to facilitate enrollment of this child into
the research study is to

reciprocity…….A Caucasian genetic counselor meets with a Hispanic woman who

is being evaluated for familial adenomatous polyposis. In an attempt to gain the
client's trust and to promote their engagement, the counselor begins the
conversation by
sharing information about her own family's experience with cancer. This counseling
technique is based on

Bardet-Biedl syndrome……While a genetic counselor is taking a family history, the

patient reports that of her sister's four children, two have polydactyly, cognitive
impairment, obesity, and vision loss. Which of the following syndromes is the MOST
likely explanation of their features?