Genetics & Human Development

Question 1

Inheritance of myotonic dystrophy

Answer 1

Autosomal dominant

Also demonstrates “anticipation”
Transmission only from mother

Question 2

Syndrome associated with syndactyly of toes

Answer 2

Smith-Lemli-Opitz syndrome

Question 3

CHARGE association

Answer 3

Coloboma, Heart defects, Atresa choanae, Retarted growth, Genital anomalies/hypogonadism, Ear anomalies

Question 4

DiGeorge syndrome

Answer 4

CATCH-22: Cardiac defects, abnormal facies, thypic hypoplasia, hypocalcemia, 22q11 deletion

Question 5

VACTERL syndrome

Answer 5

Vertebral, Anal atresia, Cardiac defects/VSD, TE fistula, Renal/Radial abnormalities, Limb abnormalities

Question 6

Mucopolysaccharidosis that is X-linked

Answer 6

Hunter syndrome (MPS II)

Question 7

Mucopolysaccharidosis that has normal intelligence

Answer 7

Morquio syndrome (MPS IV)