Chapter 18 :: Genetics in Relation to the Skin

Question 1

one parent is affected; Males and females are affected in approximately equal numbers, and the disorder can be transmitted from generation to generation

Answer 1

autosomal dominant disorder

Question 2

both parents are carriers of one normal and one mutated allele for the same gene

Answer 2

autosomal recessive disorders

Question 3

AUTOSOMAL RECESSIVE

Answer 3

Xeroderma pigmentosum

Question 4

both males and females are affected; An affected male transmits the disorder to all his daughters and to none of his sons

Answer 4

X-linked dominant inheritance

Question 5

X-LINKED RECESSIVE

Answer 5

Fabry disease

Question 6

Small head with flat face; Ears small and misshapen; Short and squat nose; Shortened limbs, lax joints; xerosis, lichenification

Answer 6

Trisomy 21; Down syndrome

Question 7

Increased risk for carbamazepine-induced SJS and TEN

Answer 7

HLA-B∗ 1502