Genetics

Question 1

What am I? Microcephaly, micrognathia, overlapping fingers, absent palmar creases, rocker bottom feet

Answer 1

Trisomy 18 (Edwards syndrome)

Question 2

Digeorge syndrome is associated with which congenital heart defect

Answer 2

Truncus arteriosus

Question 3

What am I? Aplastic anemia, short stature, microcephaly, abnormal thumbs, cafe au lait spots + hypo/hyperpigmented areas, low set ears, strabismus

Answer 3

Fanconi anemia

Question 4

Dx of fanconi anemia

Answer 4

Chromosomal breaks on genetic analysis plus clinical findings

Question 5

Most common rbc enzyme deficiency causing anemia

Answer 5

G6pd def

Question 6

Does benzene exposure cause aplastic anemia

Answer 6

Yes