Chromosomal Aberrations

Question 1

chromsome in edward syndrome

Answer 1

18

Question 2

chromsome in patae

Answer 2

13

Question 3

structural abnormamlities occur in how many pregancyes

Answer 3

0.5%

Question 4

structual abnoramlites occur in how many live births

Answer 4

0.2%

Question 5

what are the 2 processes that generate structural chromsomal aberrations

Answer 5

healing of DNA double strand breaks

unblanced recombination

Question 6

how do you get cri0du0chat

Answer 6

delection of chromsome 5

Question 7

how do you get di george

Answer 7

microdelection of chromsome 22

Question 8

symptoms of crr-du-chat

Answer 8

microcephaly
hypertelorism
micrognathia
secere mental retardation

Question 9

symptoms of di geroge

Answer 9

immunodefiency
mental retardation
cleft palate

Question 10

how do you get philadelphia chromsome

Answer 10

translocation between chromosomes 9 and 22

Question 11

chimeric BCcr/Abl protein does what

Answer 11

dchronic myelongeous leukima

Question 12

robertsonian translocation

Answer 12

long and short arms of 2 chromsomes are exchanged

Question 13

most frequenct chromsomal rearrangement inhumans

Answer 13

robertsonian translocation involving chromsomes 13q and 14q

Question 14

inversion

Answer 14

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

Question 15

how does inversion affect the carrier

Answer 15

usually doesnt, but can have problems in offspring

Question 16

balanced alternation

Answer 16

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

Question 17

unbalanced alternation

Answer 17

change that reduces or increaes the amount of DNA per cell

Question 18

are carriers of blanced alterations aware of their condition

Answer 18

no, but it can affect reproduction

Question 19

how many pregancies have abnoraml chromsomes

Answer 19

1/800

Question 20

when would you do karyotyping

Answer 20

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

Question 21

chromsomal abnoramliy is present in how many stillborn infacts

Answer 21

10%

Question 22

what cells do you use for karyotyping

Answer 22

live cells from patient - usually lymphocytes

Question 23

what stains do you use for karyotyping

Answer 23

geimsa, FISH