Aneuploidies and CNVs

Question 1

William’s Syndrome

Answer 1

• suprovalvular aortic stenosis
• overly friendly
• wide, full mouth
• deletion of 7q11.23
• no vit D supplement becuase of hypercalcemia
• Managing hypercalcemia is important becuase
  1. GI issues
  2. kidney failure
  3. cardiac arrythmias
  4. confsion
  5. coma

Question 2

Inheritance for microdeletion syndromes in general….

Answer 2

typically de novo, but would be AD if inherited

Question 3

Which tests can identify balanced chromosome translocations?

Answer 3

• karyotype
• FISH
• no: CMA b/c there is nothing lost or gained

Question 4

deep creases in palms and soles of feet

Answer 4

Mosaic Trisomy 8