genetics Flashcards Preview

Pathology > genetics > Flashcards

Flashcards in genetics Deck (20):
1

most malformation occur by ___ wks

8

2

cells are committed when it is a ____

blastocyst

3

anything causing malformation

teratogen

4

__% malformations are caused by unknown causes

75

5

biggest chem teratogen

alcohol

6

alcohol affects ____

development of brain

7

What is Torch?

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

8

congenital rubella syndrome characterized by:

microcephaly, microphthalmia, CHD

9

deletion chrom abnormality (of 11)

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

10

2 types of chrom abnormalities

Structural and Numerical

11

Trisomy 21 involves ___ translocation

Robertsonian (21-->14 or 22)

12

extra chromosomes come from meiotic ____

nondisjunction

13

most common numerical chrom abnormality

trisomy 21 (1/800)

14

to test for Trisomy 21 in pregnancy, use ___ biopsy

chorionic

15

in autosomal dominant disorders, offspring has __% chance inherit

50

16

syndrome characterized by mutation in fibrillin and multisystem disorder

marfan's syndrome

17

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

cystic fibrosis

18

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

25; 25; 50

19

X-linked recessive disorders incidence higher in ____

males

20

hemophilia is due to mutation in ___ gene

factor VIII