A member asked:

Need a simple explaination for this. what is prader-willi syndrome?

8 doctors weighed in across 2 answers
Dr. Shah Chowdhury answered

Specializes in Pediatrics

PRADER WILLI SYNDROM: A genetic disease with a deletion at the long arm of chromosome#15. Signs: lack of muscle tone at birth (hypotonia), obesity, short stature, small hands and feet, hypogonadism, small testicles, mental retardation.

Answered 1/13/2014

4.6k views

Thank
Dr. Johanna Fricke answered

Specializes in Pediatrics - Developmental and Behavioral

70% of cases of P-W: Occur when the paternal chromosome 15 genes q11-q13 are missing. In 25%, the entire paternal chromosome 15 is missing ; both come from mother. Rarely, in <5%, father's genes are present but their activity has been turned off by faulty "imprinting", which can be either accidental ; not hereditary or from the genes he inherited from his mother, with a 50% chance of p-w for each child he has.

Answered 4/8/2016

4.3k views

Thank

Related Questions

A member asked:

Can you explain hellp syndrome?

4 doctors weighed in across 2 answers

A member asked:

Can someone explain rett syndrome?

A doctor has provided 1 answer

A member asked:

Can someone explain adult aspergers syndrome?

A doctor has provided 1 answer

A member asked:

Can you explain what is samter's triad syndrome?

7 doctors weighed in across 3 answers

A member asked:

Explain to me what noonan syndrome is, and what the symptoms are?

4 doctors weighed in across 2 answers