Alagille-like syndrome with surprising karyotype: a case report.

ABSTRACT:

Background

Chromosome 5p partial monosomy (5p-syndrome) and chromosome 6p partial trisomy are chromosomal abnormalities that result in a variety of symptoms, but liver dysfunction is not normally one of them. Alagille syndrome (OMIM #118450) is a multisystem disorder that is defined clinically by hepatic bile duct paucity and cholestasis, in association with cardiac, skeletal, and ophthalmologic manifestations, and characteristic facial features. Alagille syndrome is caused by mutations in JAG1 on chromosome 20 or NOTCH2 on chromosome 1. Here, we report a preterm infant with karyotype 46,XX,der(5)t(5,6)(p15.2;p22.3) and hepatic dysfunction, who was diagnosed as having incomplete Alagille syndrome.

Case presentation

The Japanese infant was diagnosed based on the cardiac abnor

SUBMITTER: Amimoto S 

PROVIDER: S-EPMC10131304 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature