Clinical Cytogenetics Flashcards Preview

Genetics (David Oh) > Clinical Cytogenetics > Flashcards

Flashcards in Clinical Cytogenetics Deck (27):
1

Nucleosomes

fundamental packaging unit of DNA

2

p arm

'petite,' short arm

3

q arm

long arm

4

Giemsa banding

analysis
cultured cells arrested in metaphase (treated with colchicine)

5

metacentric

centromere in center

6

submetacentric

short and long arm

7

acrocentric

have 'very tiny short arms'

8

centromere stats

alphoid DNA repeat unit

9

telomere stats

beta satellite outer, tandem hexanucleotide repeats (5-TTAGGG-3)

10

what stage does in cell cycle does DNA replication occur?

S phase

11

what happens in G2?

cell prepares to undergo mitosis

12

how many double helix are there beginning of S1?

1

13

when does a cell have two double helices?

end of S

14

when does recombination occur

meiosis 1, prophase 1

15

when does reproduction arrest in female meiosis?

prophase 1

16

what is a disadvantage to FISH and SKY methods?

need living cells unlike Array CGH

17

when can nondisjunction occur

in meiosis 1 or 2

18

what karyotype is associated with turner

45,X

19

what karyotype is associated with klinefelter

47,XXY

20

what karyotype is associated with the most common chrom. abnormality?

47,XYY

21

what is the normal karyotype

46,XY

22

down syndrome karyotype

47,XX+21 47,XY+21

23

patau syndrome karyotype

47,XX+13 47,XY+13

24

edwards syndrome karyotype

47,XX+18 47,XY+18

25

robertsonian translocation

acrosonian, fusion of short arms

26

reciprocal translocation

exchange of either/or centric and acentric

27

mosaicism

nondisjunction that occurs during mitosis