Genetics

Question 1

A newborn who is hypotonic and noted to have brachycephaly and recurrent vomiting due to duodenal atresia?

Answer 1

Down syndrome

Question 2

14 year old girl, normal intelligence, short for her age and not yet started to menstruate?

Answer 2

Turner syndrome

Question 3

A small for dates newborn, small chin, severe LD, round shaped soles of the feet

Answer 3

Edward’s syndrome

Question 4

5 year old girl with short stature and hypertrophy of her left sided limbs, large head, LD

Answer 4

Russell-Silver syndrome

Question 5

Low set ears, cleft lip and palate, polydactyly, micro-ophthalmia, LD. Babies rarely survive more than a few weeks

Answer 5

Patau’s syndrome

Question 6

Autosomal dominant, triple repeat expansion disorder affecting chromosome 4

Answer 6

Huntington’s disease

Question 7

Autosomal recessive single gene disorder on chromosome 11, causing childhood anaemia and jaundice

Answer 7

Sickle cell disease

Question 8

Decreased crown pubis, pubis heel ratio. Associated with decreased libido infertility, and gynaecomastia and LD. Normal lifespan

Answer 8

Klinefelter’s syndrome

Question 9

Sex linked chromosomal disorder. Most common inherited cause of LD in men. Associated with macro-orchidism.

Answer 9

Fragile X syndrome

Question 9

Sex linked chromosomal disorder. Most common inherited cause of LD in men. Associated with macro-orchidism.

Answer 9

Fragile X syndrome