genetics

Question 1

most malformation occur by ___ wks

Answer 1

8

Question 2

cells are committed when it is a ____

Answer 2

blastocyst

Question 3

anything causing malformation

Answer 3

teratogen

Question 4

__% malformations are caused by unknown causes

Answer 4

75

Question 5

biggest chem teratogen

Answer 5

alcohol

Question 6

alcohol affects ____

Answer 6

development of brain

Question 7

What is Torch?

Answer 7

Toxoplasma, other less common infections, rubella, cytomegalovirus, herpes

Question 8

congenital rubella syndrome characterized by:

Answer 8

microcephaly, microphthalmia, CHD

Question 9

deletion chrom abnormality (of 11)

Answer 9

WAGR (tumour on kidney, arevia, genital abnormalities, retardation)

Question 10

2 types of chrom abnormalities

Answer 10

Structural and Numerical

Question 11

Trisomy 21 involves ___ translocation

Answer 11

Robertsonian (21–>14 or 22)

Question 12

extra chromosomes come from meiotic ____

Answer 12

nondisjunction

Question 13

most common numerical chrom abnormality

Answer 13

trisomy 21 (1/800)

Question 14

to test for Trisomy 21 in pregnancy, use ___ biopsy

Answer 14

chorionic

Question 15

in autosomal dominant disorders, offspring has __% chance inherit

Answer 15

50

Question 16

syndrome characterized by mutation in fibrillin and multisystem disorder

Answer 16

marfan’s syndrome

Question 17

most common autosomal recessive disorder that affects gene for coding Cl transport channel

Answer 17

cystic fibrosis

Question 18

progeny of 2 HZ for AR disorder is ___% N, ___% affected, ___% carriers

Answer 18

25; 25; 50

Question 19

X-linked recessive disorders incidence higher in ____

Answer 19

males

Question 20

hemophilia is due to mutation in ___ gene

Answer 20

factor VIII