Chromosomal Aberrations Flashcards Preview

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Flashcards in Chromosomal Aberrations Deck (23):
1

chromsome in edward syndrome

18

2

chromsome in patae

13

3

structural abnormamlities occur in how many pregancyes

0.5%

4

structual abnoramlites occur in how many live births

0.2%

5

what are the 2 processes that generate structural chromsomal aberrations

healing of DNA double strand breaks
unblanced recombination

6

how do you get cri0du0chat

delection of chromsome 5

7

how do you get di george

microdelection of chromsome 22

8

symptoms of crr-du-chat

microcephaly
hypertelorism
micrognathia
secere mental retardation

9

symptoms of di geroge

immunodefiency
mental retardation
cleft palate

10

how do you get philadelphia chromsome

translocation between chromosomes 9 and 22

11

chimeric BCcr/Abl protein does what

dchronic myelongeous leukima

12

robertsonian translocation

long and short arms of 2 chromsomes are exchanged

13

most frequenct chromsomal rearrangement inhumans

robertsonian translocation involving chromsomes 13q and 14q

14

inversion

chromosomes suffers 2 breaks and broken off fragment is re-inserted in the wrong orientation

15

how does inversion affect the carrier

usually doesnt, but can have problems in offspring

16

balanced alternation

chromosomal rearrangement that does not change the amount of DNA in the affected cell

17

unbalanced alternation

change that reduces or increaes the amount of DNA per cell

18

are carriers of blanced alterations aware of their condition

no, but it can affect reproduction

19

how many pregancies have abnoraml chromsomes

1/800

20

when would you do karyotyping

problems of early growth/development
stillbirth
fertility problem
pregnancy with advanced maternal age

21

chromsomal abnoramliy is present in how many stillborn infacts

10%

22

what cells do you use for karyotyping

live cells from patient - usually lymphocytes

23

what stains do you use for karyotyping

geimsa, FISH