Alagille syndrome inherited from a phenotypically normal mother with a mosaic 20p microdeletion

doi:10.1002/ajmg.10616

Article

Alagille syndrome inherited from a phenotypically normal mother with a mosaic 20p microdeletion

18 Sept 2002

Abstract excerpt

We report an 18-month-old girl with Alagille syndrome, caused by a submicroscopic deletion of chromosome 20p, including the Jagged1 (JAG1) gene. FISH using a BAC probe containing JAG1 identified the deletion. Chromosomes were normal at the 550 band level. The deletion was inherited from her phenotypically normal mother who was found to have the deletion in 9/20 cells studied from peripheral blood. This is the...

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.