Week 5: Medical Genetics- Imprinting

Question 1

3 etiologies of Prader Willi Syndrome

Answer 1

Paternal deletion of 15q11-13, maternal UPD of chromosome 15, imprinting centre defects

Question 2

3 major features of PWS

Answer 2

Infantile hypotonia, hyperphagia and obesity, hypogonadism

Question 3

What type of molecular test should be done first for PWS?

Answer 3

DNA methylation studies

Question 4

4 etiologies for Angelman syndrome

Answer 4

Maternal deletion of 15q11-13, paternal UPD of chromosome 15, UBE3A mutation, imprinting centre defect

Question 5

3 major features of Angelman syndrome

Answer 5

Seizures, ataxic gait, DD, excitable nature

Question 6

What is imprinted in BWS

Answer 6

11p15

Question 7

3 major features of BWS

Answer 7

Overgrowth with hemihypertrophy, neonatal hypoglycaemia, abdominal wall defect, macroglossia

Question 8

2 etiologies for Russel Silver Syndrome

Answer 8

Maternal UPD of chromosome 7; hypomethylation of 11p15.5

Question 9

3 major features of Russel Silver Syndrome

Answer 9

Pre and postnatal growth restriction, growth asymmetry, CALs

Question 10

Etiology of Albright Hereditary Osteodystrophy

Answer 10

Maternal allele mutated- fully expressed disease; paternal allele mutated- partially expressed

Question 11

3 major clinical features of Albright Hereditary Osteodystrophy

Answer 11

Resistance to parathyroid hormone, short stature, brachydactyly