A member asked:

Which chromosomal mutation occurs in alagille syndrome?

A doctor has provided 1 answer
Dr. Johanna Fricke answered

Specializes in Pediatrics - Developmental and Behavioral

Alagille Syndrome is: Caused by an autisomal dominant mutation in the jagged-1 gene on the short arm of chromosome 20, 20p12. Because of "variable penetrance" some parents don't have noticeable symptoms, especially if they have mosaicism, i.e., some, but not all, of their cells carry the mutation. Therefore, although 15% of cases are "sporadic, " i.e., from new mutations, it is recommended that parents be tested.

Answered 10/4/2016

5.4k views

Thank

Related Questions

A member asked:

Alagille syndrome info needed. What is it?

A doctor has provided 1 answer

A member asked:

Is their a medicine called uuestrion for alagille syndrome?

A doctor has provided 1 answer

A member asked:

What exactly is alagille syndrome?

7 doctors weighed in across 2 answers