Genetic disorders

Question 1

Genetic disorder characterized by intellectual disability, long narrow face w prominent forehead and chin, large ears and testicular enlargement?
genetic mutation? gene?

Answer 1

Fragile X syndrome

CGG repeat in FMR1 gene

Question 2

pt presents with broad chest, shortened fourth metacarpals and short stature, diagnosis?
associated cardiac abnormality?

Answer 2

Turner syndrome

bicuspid aortic valve