Deletion syndromes

Question 1

Di George (Velocardiofacial)

Answer 1

22q11.2
autosomal dominant 
-deletion
mild to moderate LD, facial deformities
-absent or malformed parathyroids resulting in hypocalacemia
-broad nasal bridge
-articulatory speech and swallowing problems
-25% have psychosis

Question 2

WIlliams syndrome

Answer 2

7q11 microdeletion
-hypercalcaemia at birth, supravalvular aortic stenosis, moderate LD, disinhibited disposition, speech that is superficially fluent, hyperacusis

Question 3

Smith Magenis syndrome

Answer 3

17p11.2 microdeletion
moderate to severe LD
self-harming behaviours
sleep disturbances and self hugging

Question 4

Angelman syndrome

Answer 4

Happy puppet
Deletion of 15q11-13 maternally inherited
-causes developmental delay, low IQ, jerky movements, hand flapping, frequent smiling, seizures

Question 5

Prader-Willi syndrome

Answer 5

Deletion of 15q11-13 paternally inherited

-obesity, short stature, small limbs, decreased IQ with hyperphagia and skin picking

Question 6

Cri du Chat syndrome

Answer 6

Deletion of chromosome 5p (locus 5p15.2) is responsible for the phenotype)
feeding problems due to poor swallow and sucking
cat like cry with poorly developed facial features