2 doctors weighed in:

Which chromosomal mutation occurs in alagille syndrome?

2 doctors weighed in
Dr. Johanna Fricke
Pediatrics - Developmental & Behavioral

In brief: 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.

In brief: 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.
Dr. Johanna Fricke
Dr. Johanna Fricke
Thank
Dr. Michael Sparacino
Family Medicine

In brief: See your doctor

Have your doctor refer you to a genetic counsellor.

In brief: See your doctor

Have your doctor refer you to a genetic counsellor.
Dr. Michael Sparacino
Dr. Michael Sparacino
Thank
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