Genetic/Chromosomal Flashcards Preview

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Flashcards in Genetic/Chromosomal Deck (27)
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1

trisomy 21, retardation, transverse palmar crease

Down syndrome

2

45 XO; web neck, widely spaced nipples and small breasts

Turner syndrome

3

45XXY: tall thin sterile males, small testes, gynecomastia

Klinefelters syndrome

4

defective fibrillin-1, arachnodactyly, lens dislocation and MVP

Marfan syndrome

5

hypermobile joints and excessive elastic tissue; early osteoarthritis

Ehlers-Danlos syndrome

6

frequent broken bones and blue sclera; defective collagen synthesis

osteogenesis imperfecta

7

multiple cysts in the kidney and berry aneurysms in the brain

adult polycystic kidney disease

8

glucose 6-phosphatase deficiency glycogen storage disease

Von Gierke disease

9

glycogen storage disease; muscle phosphorylase deficiency

McArdle disease

10

glycogen storage disease; maltase deficiency in the heart

Pompe disease

11

cherry red macula, ganglioside accumulation, B-hexaminidase defect

Tay-Sachs disease

12

accumulation of glucocerebrosides in the brain; mental retardation

Gaucher disease

13

sphingomyelin accumulation in the brain and other tissue

Niemann Pick disease

14

accumulation of phenylalanine in the brain; + Guthrie test

Phenylketonuria

15

Lack of homogentisic acid, dark urine and ochronosis

alkaptonuria

16

defective chloride transport, salty sweat, frequent lung infections

cystic fibrosis

17

autosomal recessive disease in 2% of African-Americans

Sickle cell disease

18

valine replaces Glutamine in the B-chain hemoglobin

sickle cell disease

19

autosomal dominant disease in 8% of African Americans

sickle cell trait

20

Defective hemoglobin A formation common in the Mediterranean

beta-Thalassemia

21

defective hemoglobin A formation common in South East Asia

alpha-thalassemia

22

absence of dystrophin, progressive muscle weakness

Duchenne muscular dystrophy

23

recessive sex linked disease due to lack of Factor Vlll

Hemophilia A

24

lack of Factor lX (Christmas Factor); recessive sex linked disease

hemophilia B

25

HGPRT deficiency resulting in gout and self-mutilation in children

Lesch-Nyhan syndrome

26

only dominant sex-linked genetic disorder; lack of Vit D3 receptors

Vit D resistant rickets

27

SCT, APKD, Marfan's, Ehlers-Danlos, Osteogenesis imperfecta

autosomal dominant diseases