Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management.

ABSTRACT:

Purpose

Beckwith-Wiedemann syndrome (BWS) is a human genomic imprinting disorder characterized by lateralized overgrowth, macroglossia, abdominal wall defects, congenital hyperinsulinism, and predisposition to embryonal tumors. One of the molecular etiologies underlying BWS is paternal uniparental isodisomy of chromosome 11p15.5 (pUPD11). About 8% of pUPD11 cases are due to genome-wide paternal uniparental isodisomy (GWpUPD). About 30 cases of live-born patients with GWpUPD have been described, most of whom were mosaic and female. We present male patients with BWS due to GWpUPD, elucidate the underlying mechanism, and make recommendations for management.

Methods

Three male patients with GWpUPD underwent clinical and molecular evaluation by single-nucleotide polymorphism (SNP

SUBMITTER: Sheppard SE 

PROVIDER: S-EPMC7848850 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature