Genetics

Question 1

Diagnostic test of choice for imprinting disorders (ex. Prader-Willi Syndrome, Angelman Syndrome):

Answer 1

Methylation analysis

Question 2

Fragile X Syndrome is due to trinucleotide repeat expansion in what gene?

Answer 2

FMR1

Causes intellectual disability, macroorchidism, long face, mitral valve prolapse, hyperactivity

Question 3

What two cardiac anomalies can be seen in patients with Turner Syndrome?

Answer 3

1. Bicuspid aortic valve
2. Coarctation of the aorta