Peds- Genetic Disorders

Question 1

Downs - trisomy 21

Heart issues

Answer 1

1/3 - 1/2 of children have congenital heart disease

Atrial septal defect and ventricular septal defect most common

Question 2

Huntington disease

Answer 2

Autosomal dominant

Defect in chromosome repeats CAG in the Hungington protein