Alexandria University Semester: Fall

Medical Research Institute Academic year: 2019-2020

Department of Human Genetics Time allowed: 60 minutes
Master Degree Date: 6/1/2020
Course title: Cytogenetics Total marks: 60 marks
Course code: 1713711
Endterm Exam
Model Answer________________________________________________________________
Question 1: (27 marks, 1 mark each, 27 mins)
Choose the correct answer
1- Which of the following would result in a Klinefelter phenotype
a- Mos 47,XXY[45]/46,XY[5]
b- 46,X,r(Y)
c- 45,XX,rob(21;22)(q10;q10)
d- 46,XX,t(Y;1)(q12;p21)

2- Trisomy 21 is most commonly due to:

a- Nondisjunction in paternal gamete
b- Nondisjunction in maternal gamete
c- Translocation to chromosome 14
d- Translocation to any autosome

3- The offspring of a 45,X female :

a- Normal females
b- Normal males
c- No viable offspring
d- Offspring with a chromosome anomaly

4- LSI probe hybridize to:

a- Unique DNA sequence
b- Centromeres
c- Telomeres
d- Whole chromosomes

5- The meiotic error leading to an XYY is:

a- Meiosis I in mother
b- Meiosis I in father
c- Meiosis II in mother
d- Meiosis II in father

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6- ………………………….is the diagrammatic representation of chromosomes
a- Ideogram
b- Chromosome analysis
c- Fluorescent in situ hybridization
d- Karyotype

7- Which karyotype would be MOST frequently seen in liveborn infants (as opposed to
spontaneous abortions)?
a- 47,XX,+21
b- 47,XX,+3
c- 46,XY,-11,+22
d- 46,YY
e- 69,XXX

8- ………………………… can improve the overall development of a Down syndrome baby:

a- Karyotype
b- Prenatal screening
c- Early intervention programs
d- IQ tests

9- The offspring of a 47,XXY will be

a- Males only
b- Females only
c- Half males and half females
d- Non of the above

10- A chromosomal analysis is obtained on a young man with mild signs of

Klinefelter syndrome and reveals a mos 47,XXY [40]/46,XY[10] karyotype.
Nondisjunction is most likely to have occurred in:
a- maternal meiosis I
b- maternal meiosis II
c- paternal meiosis I
d- paternal meiosis II
e- mitosis after fertilization

11- ……………. is added to cell cultures to obtain high resolution banded

chromosomes.
a- Hypotonic
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 b- Fixative
c- Methotrexate
d- Heparin

12- The carrier of a 21/21 translocation will have

a- No viable offspring
b- Normal offspring
c- Down syndrome children only
d- Non of the above

13- Which of the following techniques is used to study the heterochromatin on the
long arm of the Y chromosome
a- G-banding
b- R-banding
c- NOR staining
d- C-banding

14- In women with increased risk for conceiving a Down syndrome child the
method of choice for first trimester screening is
a- Amniocentesis
b- Chorionic villous sampling
c- Blood tests including PAPP-A
d- X-rays

15- For identifying structural chromosome anomalies the banding level should be
not less than:
a- 450 bands
b- 550 bands
c- 650 bands
d- 750 bands

16- Adjacent I segregation in meiosis for a balanced translocation results in

a. 47 chromosomes after fertilization.
b. Segregation of one derived chromosome only to one pole.
c. Segregation of chromosomes with different centromeres to one pole.
d. Segregation of chromosomes with the same centromere to one pole.
e. A balanced genetic segregation.

17- Uniparental disomy is the cause of about 30% of Prader-Willi cases. This could occur
if the mother contributed ____ copies of the chromosome and the father contributes
____ copies.

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 a. 2; 2
b. 1; 1
c. 0; 2
d. 2; 0

18- The origin of chromosomes in complete Hydatidiform moles are:

a. Two maternal sets
b. Two paternal sets
c. One maternal and one paternal set
d. One maternal and two paternal sets

19- The single most common chromosomal abnormality in abortuses is:

a. Trisony 18
b. Trisomy 21
c. 47,XXY
d. 45,X

20- Which of the following karyotypes is not compatible with survival to birth?
a. 47,XY,+13
b. 47,XX,+18
c. 47,XY,+21
d. 45,Y
21- Which of the following is NOT a chromosome instability syndrome?
a. Klinefelter syndrome
b. Ataxia telangiectasia
c. Fanconi anaemia
d. Bloom syndrome

22- All are balanced chromosomal rearrangements EXCEPT:

a. Inversions
b. Translocations
c. Insertions
d. Isochromosomes

23- Sex chromosome deletion occur in:

a. Monosomy of autosome
b. Monosomy of sex chromosome
c. Partial monosomy of an autosome
d. Partial monosomy of a sex chromosome

24- Which of the following can arise from unequal crossover, or can occur among the
offspring of reciprocal translocation carriers?
a. Isochromosome
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 b. Uniparental disomy
c. Inversion
d. Duplication

25- The overall frequency of chromosome abnormality in spontaneous abortion is

a. 10-20%
b. 20-30%
c. 40-50%
d. 60-70%

26- The overall incidence of chromosome abnormalities in newborns has been found
to be about:
a. 1 in 160 births
b. 1 in 360 births
c. 1 in 580 births
d. 1 in 120 births

27- How many chromosomes are there in triploid ?

a. 3
b. 24
c. 69
d. 47
e. 92

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 Question no. 2: (3 marks, 0.5 mark each)

Matching Question
Instructions: Extended matching questions consists of lettered options followed by a
list of numbered descriptions. For each numbered description select the one lettered
option that is most closely match the appropriate term. You can use the lettered
options once, more than once, or not at all.
Options:
a. Deletion
b. Insertion
c. Paracentric inversion
d. Pericentric inversion
e. Balanced reciprocal translocation
f. Unbalanced reciprocal translocation
g. Robertsonian translocation
h. Ring chromosome
i. Isochromosome

For each chromosome rearrangements select the correct description

1. A chromosome that has lost the genetic material of one arm and duplicated
the genetic material of the other arm. (…i…..)
2. A chromosome which contains a segment which has turned upside down
and includes the centromere. (……d….)

3. A chromosome which is made up of the long arms of two acrocentric

chromosomes which have fused at their centromeres with loss of the
short arms. (…g…….)
4. A chromosome that has lost material from both ends with fusion of the
'sticky' ends. (……h….)
5. Two chromosomes that have exchanged segments without loss or gain of
any material. (……e….)
6. A segment removed from one chromosome is placed into a different
chromosome, either in its usual orientation or inverted. (……b….)

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Question no. 3: (30 marks, 5 marks each, 5 minutes each)
Write short notes on:
1. Uniparental disomy (5 marks)
▪ Uniparental disomy (UPD) was defined as the inheritance or presence in a
diploid offspring of both homologs of a pair of chromosomes from one parent
only with no contribution from the second parent. Depending on the origin of
the disomic chromosome, UPD is denoted as maternal or paternal. (1 mark)
▪ UPD can be further classified as heterodisomy (hUPD) or isodisomy (iUPD). In
full hUPD the two inherited chromosomes represent a chromosome pair from a
single parent. In iUPD there are two identical copies of one of the two parental
chromosomes (1 mark)
▪ Robertsonian translocations (ROBs) carriers are at increased risk for aneuploidy
and thus uniparental disomy (UPD). Chromosomes 14 and 15 are imprinted
with expression of genes dependent on the parental origin of the chromosome.(1
mark)
▪ Correction of a trisomic or monosomic conceptus for chromosomes 14 or 15
would lead to one of the established UPD 14mat/pat or UPD 15 (Prader-
Willi/Angelman) syndromes (PWS/AS). It has been observed that around 30%
of PWS are associated with UPD 15mat and 2-5% of AS with UPD 15pat. (1
mark)
▪ The main mechanisms through which UPD may arise in ROBs include trisomy
rescue (1 mark)

2. Paracentric inversions generally do not raise the problem of imbalance

in offspring. Why not? (5 marks)

• Carriers of paracentric inversions are often fertile (males as much as females),

and about half of descendants have a normal karyotype, and the other half have
the balanced rearrangement (like the parent). (3 marks)
• There are only a few offsprings with unbalanced forms, since unbalanced forms
are often too deleterious to give rise to a viable conceptus (acentric and
dicentric chromosomes). (2 marks)

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3. Marker chromosomes (5 marks)

• Very small, unidentified chromosomes ,frequently seen in a mosaic state. They

are usually in addition to the normal chromosome complement and are thus also
referred to as supernumerary chromosomes or extra structurally abnormal
chromosomes. (4 marks)
• It is difficult to characterize marker chromosomes specifically by banding, even
by high resolution techniques, because they are usually so small that the
banding pattern is not apparent. FISH with various probes is required for precise
identification. Larger marker chromosomes contain some material from one or
both chromosome arms, creating an imbalance for whatever genes are present. (
1 mark)
4. Provide a written description for these cytogenetic result (10 marks):
a- 46,XY,t(3,12)(p23,q22)
A male patient with a reciprocal translocation between short arm of
chromosome 3 at band 23and the long arm of chromosome 12 at band
22.46,X,i (X)(q10)
b- 46,X,i (X)(q10)
A female variant of Turner syndrome with isochromosome
of the long arm of chromosome X so that the patient has 3
copies of the long arm and only one copy of the short arm.

5. Explain the consequences faced by a female carrier of a Robertsonian

translocation (14;21) married to a male with a normal karyotype (5 marks).
The female carrier of a Robertsonian translocation (14;21) may have:
1- A normal pregnancy and normal baby
2- A normal pregnancy and the baby is a carrier of the rob(14;21)
3- A translocation Down syndrome baby in approx. 14% of pregnancies.
4- Pregnancy loss due to monosomy 21
5- Trisomy 14
6- Pregnancy loss due to monosomy 14

Good Luck

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