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Article

Beckwith-Wiedemann spectrum exhibiting a 46,XY karyotype caused by genome-wide paternal uniparental heterodisomy: a case report.

Human genomics - 23 Jun 2026

Hara Satoshi, Sato Tomohiko, Shimokawa Osamu, Pooh Ritsuko, Watanabe Yayoi, Kubiura-Ichimaru Musashi, Soejima Hidenobu

Abstract excerpt

BACKGROUNDS: Patients with genome-wide paternal uniparental disomy (GWpUPD) usually exhibit clinical features of Beckwith-Wiedemann syndrome (BWS) and a 46,XX karyotype, with all chromosomes showing isodisomy. To date, male patients with GWpUPD and a complete 46,XY karyotype, specifically involving heterodisomy, have not been described. RESULTS: We report a male infant exhibiting classical BWS clinical features....

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Topics

Humans
Male
Beckwith-Wiedemann Syndrome
Uniparental Disomy
DNA Methylation
Genomic Imprinting

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Paternal Inheritance

Infant

Polymorphism, Single Nucleotide

Chromosomes, Human, X

Karyotype

Source

Open in PubMed Open full text

Identifiers

PMID: 42337816
DOI: 10.1186/s40246-026-01009-7
PMCID: PMC13536565

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 21 Oct 2026.

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