Lecture 19

Question 1

_____ is defined as any non-euploid number of chromosomes resulting from ______ of a single pair of homologous chromosomes during meiosis.

Answer 1

Aneuploidy

Nondisjunction

Question 2

______ is a method of scanning the entire genome by taking a sample from amniotic fluid and arresting the cells in metaphase (when the chromosomes are most ____). Staining with ____ dye results in distinctive banding (G-patterns). This can show abnormal chromosome number, translocations, and/or LARGE duplications/deletions.

Answer 2

Karyotyping

Condensed

Giemsa

Question 3

_______ uses labeled oligonucleotide sequences complementary to a target gene to identify SMALL changes in DNA. This method can be performed on cells in ______ (phase), so there’s no need for a growth period and arrest in metaphase –> more rapid.

Answer 3

FISH

Interphase

Question 4

______ syndrome results from a deletion at the q1:1 locus on chromosome 22. This can be detected by ____.

Answer 4

DiGeorge

FISH

Question 5

______ means the event is happening in one arm of the chromosome (on one side of the centromere.) _____ means the event is happening on both sides.

Answer 5

Paracentric

Pericentric

Question 6

Recombination outside the inversion region generates ____ normal and ____ inversion carriers, but all will be phenotypically _____.

Recombination within the inversion region will lead to different gametes depending on whether the inversion was peri- or paracentric. For the former, all resultant chromosomes will have a(n) _____ number of centromeres.

Answer 6

1/2 normal

1/2 carrier

Normal

Normal

Question 7

Robertsonian translocations can only occur in acrocentric chromosomes, which are ___, ___, ___, ___, and ___.

Answer 7

13

14

15

21

22