Chromosome Abnormalities

Question 1

what’s it called when there’s 3 copies of 1 chm

Answer 1

trisomy (13,18,21,X)

Question 2

what’s a monosomy

Answer 2

when 1 chm is missing its pair (X/Y)

Question 3

3 structural defects a chm can have

Answer 3

deletion
duplication
translocation

Question 4

what’s deletion

Answer 4

loss of a piece of chm

Question 5

what’s translocation

Answer 5

rearrangement in location of a piece of chm

Question 6

how many live births have chm disorders

Answer 6

1 in 200

Question 7

what % of first trimester abortions are due to chm disorders

Answer 7

60%

Question 8

what results in sperm/ oocytes lacking/gaining a chm

Answer 8

failure in chm distribution in making gametes during division

Question 9

what makes chm abnormalities more common

Answer 9

maternal age (older)

Question 10

what’s an abnormal no. of chms called

Answer 10

aneuploidy

Question 11

what 5 chms’ extra copies have any compatibility with life

Answer 11

X
Y
21
18
13

Question 12

2 e.gs of syndromes caused by extra copies of X and Y chms

Answer 12

Klinefelter’s
Triple X
XYY syndrome

Question 13

what’s the syndrome caused by extra copy of chm 21

Answer 13

Downs syndrome

Question 14

what does Down syndrome produce higher levels of

Answer 14

certain proteins

Question 15

3 health problems caused by downs

Answer 15

hearing/vision defects
heart abnormalities
developmental difficulties (delayed coordination skills)
delayed mental abilities (speech, memory)

Question 16

what does downs give an increased risk of developing

Answer 16

alzheimers

Question 17

what’s downs life expectancy

Answer 17

between 50 and 60