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Investigation of (epi)genotype causes and follow-up manifestations in the patients with classical and atypical phenotype of Beckwith-Wiedemann spectrum.

American journal of medical genetics. Part A - 1 Jun 2021

Tüysüz Beyhan, Güneş Nilay, Geyik Filiz, Yeşil Gözde, Celkan Tiraje, Vural Mehmet

Abstract excerpt

Beckwith-Wiedemann syndrome (BWS) is a genomic imprinting disorder, characterized by macroglossia, abdominal wall defects, lateralized overgrowth, and predisposition to embryonal tumors. It is caused by the defect of imprinted genes on chromosome 11p15.5, regulated by imprinting control (IC) domains, IC1, and IC2. Rarely, CDKN1C and chromosomal changes can be detected. The aim of this study is to retrospectively...

Topics

Beckwith-Wiedemann Syndrome
Child
Child, Preschool
Cyclin-Dependent Kinase Inhibitor p57
DNA Methylation
Epigenesis, Genetic
Epigenome
Female
Genomic Imprinting
Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Infant

Male

Phenotype

Source

Identifiers

PMID: 33704912
DOI: 10.1002/ajmg.a.62158

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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