Genetic/Chromosomal

Question 1

trisomy 21, retardation, transverse palmar crease

Answer 1

Down syndrome

Question 2

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

Answer 2

Turner syndrome

Question 3

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

Answer 3

Klinefelters syndrome

Question 4

defective fibrillin-1, arachnodactyly, lens dislocation and MVP

Answer 4

Marfan syndrome

Question 5

hypermobile joints and excessive elastic tissue; early osteoarthritis

Answer 5

Ehlers-Danlos syndrome

Question 6

frequent broken bones and blue sclera; defective collagen synthesis

Answer 6

osteogenesis imperfecta

Question 7

multiple cysts in the kidney and berry aneurysms in the brain

Answer 7

adult polycystic kidney disease

Question 8

glucose 6-phosphatase deficiency glycogen storage disease

Answer 8

Von Gierke disease

Question 9

glycogen storage disease; muscle phosphorylase deficiency

Answer 9

McArdle disease

Question 10

glycogen storage disease; maltase deficiency in the heart

Answer 10

Pompe disease

Question 11

cherry red macula, ganglioside accumulation, B-hexaminidase defect

Answer 11

Tay-Sachs disease

Question 12

accumulation of glucocerebrosides in the brain; mental retardation

Answer 12

Gaucher disease

Question 13

sphingomyelin accumulation in the brain and other tissue

Answer 13

Niemann Pick disease

Question 14

accumulation of phenylalanine in the brain; + Guthrie test

Answer 14

Phenylketonuria

Question 15

Lack of homogentisic acid, dark urine and ochronosis

Answer 15

alkaptonuria

Question 16

defective chloride transport, salty sweat, frequent lung infections

Answer 16

cystic fibrosis

Question 17

autosomal recessive disease in 2% of African-Americans

Answer 17

Sickle cell disease

Question 18

valine replaces Glutamine in the B-chain hemoglobin

Answer 18

sickle cell disease

Question 19

autosomal dominant disease in 8% of African Americans

Answer 19

sickle cell trait

Question 20

Defective hemoglobin A formation common in the Mediterranean

Answer 20

beta-Thalassemia

Question 21

defective hemoglobin A formation common in South East Asia

Answer 21

alpha-thalassemia

Question 22

absence of dystrophin, progressive muscle weakness

Answer 22

Duchenne muscular dystrophy

Question 23

recessive sex linked disease due to lack of Factor Vlll

Answer 23

Hemophilia A

Question 24

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

Answer 24

hemophilia B

Question 25

HGPRT deficiency resulting in gout and self-mutilation in children

Answer 25

Lesch-Nyhan syndrome

Question 26

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

Answer 26

Vit D resistant rickets

Question 27

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

Answer 27

autosomal dominant diseases