Lecture 11 Paediatric Genetics

Question 1

What mutation causes Down’s Syndrome

Answer 1

Trisomy 21

Question 2

What conditions are people with Down’s syndrome at a higher risk of

Answer 2

VSD
Congenital heart disease
Hypothyroidism
Early onset Alzheimer disease

Question 3

How are rare intellectual disability/malformations diagnosed medically

Answer 3

Biochemical
Chromosome structure (karyotyping)
Microarray