LECTURIO GENETICS

Which genetic disorders can be seen on pedigrees?

 Single-gene disorders
Which of the following disorders is CORRECTLY matched to its category?
 Turner Syndrome – Chromosomal disorder
Which of the following is NOT a type of chromosomal disorders?
 A mutation of a nucleotide on the short arm of chromosome 11

Which of the following is NOT a method used for genome mapping?

 Microarrays

Chain-terminating dideoxynucleotides (ddNTPs) are incorporated by DNA

polymerase during in vitro DNA replication. The resulting DNA fragments are
heat-denatured, separated by size using gel electrophoresis, and visualized
under UV light. Which technique is described here?
 Sanger sequencing

What are microarrays used for?

 Determining when a gene is expressed

Which of the following is NOT a type of chromosome based on centromere

location?
 Subacrocentric
Where are the centromeres located in the submetacentric chromosomes?
 Slightly off the center of the chromosome
What is the fate of most embryos with chromosomal abnormalities?
 Spontaneous abortion
Which of the following is mainly responsible for aneuploidy in a fetus?
 Homologous chromosomes fail to separate properly during meiosis I.

Why is non-disjunction more likely in females than in males, according to one

of the hypotheses discussed in the lecture?
 A female is born with all her oocytes arrested in meiosis I, while males
constantly synthesize fresh haploid cells.
Which of the following chromosomal aneuploidies is correctly paired with its
name?
 Trisomy 13 - Patau syndrome
 21 down syndrome
 18 edwards
Which of these factors is most strongly linked to a higher incidence of Down
syndrome?
 Maternal age

Which of the following complete aneuploidies is incompatible with life?

 Trisomy 16
Which of the following trisomies is the most common among live births?
 21
Which of the following physical characteristics is LEAST associated with
Down syndrome?
 Polydactyly
Which of the following is NOT a lysosome-related disorder?
 Down syndrome
Which of the following most likely leads to chromosomal mosaicism?
 Nondisjunction during mitosis after fertilization
Which of the following terms refers to trisomy 21 with some cells containing 3
and others containing 2 copies of chromosome 21?
 Mosaic Down syndrome

The karyotype of a newborn with Down syndrome shows two copies of

chromosome 21 and an extra chromosome 21 attached to the long arm of
chromosome 14. Which of the following variations of Down Syndrome is most
likely present in this patient?
 Robertsonian translocation

A newborn exhibits only some characteristics of Down syndrome. Whole

genome sequencing shows the presence of an extra copy of parts of
chromosome 21. Which of the following variations of Down syndrome is most
likely present in this patient?
 Partial trisomy 21
Which of the following could lead to complete gonadal dysgenesis in an XY
individual who has a normal sex-determining region Y?
 Complete androgen insensitivity syndrome

Which of the following conditions may cause a female phenotype in an XY

individual before puberty with virilization at puberty?
 Partial androgen insensitivity syndrome

Which of the following phenotypes best corresponds to complete androgen

insensitivity syndrome?
 Female external genitalia in the presence of testes and testosterone
production
Approximately what percentage of 46XY complete gonadal dysgenesis is due
to deletion of sex-determining region Y?
 15%

Which feature of congenital adrenal hyperplasia could lead to disorder of

sexual development?
 Disrupted production of hormones

Which of the following genetic phenomena is a frequent cause of 46XX male

disorder of sexual development?
 Translocation of the sex-determining region Y gene onto the X
chromosome