Structural Aneusomy and Contiguous Gene Syndromes - Lecture 5

Question 1

Prader Willi Syndrome

Answer 1

UPD 15 - Maternally imprinted

• Small birth weight
• Severe hypotonia
• Treatment: Early growth hormone treatment may resolve SOME problems but is not a full treatment

Question 2

DiGeorge/VCF Syndrome

Answer 2

Deletion 22q11

• multiple congenital anomalies
• learning disability
• psychiatric problems
• conotruncal heart defects
• speech/language problems
• immune system issues

Question 3

Charcot Marie Tooth Disease

Answer 3

CMT1 duplication syndrome

• Autosomal dominant
• Demyelinating peripheral neuropathy
• Foot deformities
• Claw hand deformities
• Hyporeflexia

Question 4

William Syndrome

Answer 4

Del 7q11.23

• Usually de novo
• Contains ELN gene
• elastic skin
• sensitive hearing
• verbal skills better than cognitive skills
• congenital heart defects
• high calcium levels
• hypotonia

Question 5

Wolf-Hirschorn Syndrome

Answer 5

4p Minus Syndrome

• 90% de novo
• Profound intellectual disability
• High incidence of seizures
• “Greek warrior helmet” appearance from wide-set eyes

Question 6

Cri-du-Chat

Answer 6

Deletion 5p

• Mew like cry
• 5p13 is critical region for cry phenotype
• One of the most common deletion syndromes
• Microcephaly
• Majority severely affect
• Severity of disease correlated with size of deletion

Question 7

Smith-Magenis Syndrome

Answer 7

Chromsome 17

• Completely non-verbal
• Aggressive behaviors
• Sleep problems