Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: a post-fertilization event.

doi:10.1159/000472384

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Article

Somatic mosaicism for partial paternal isodisomy in Wiedemann-Beckwith syndrome: a post-fertilization event.

European journal of human genetics : EJHG - 1 Jan 1993

Henry I, Puech A, Riesewijk A, Ahnine L, Mannens M, Beldjord C, Bitoun P, Tournade M F, Landrieu P, Junien C

Abstract excerpt

Genomic imprinting has been implicated in the aetiology of an overgrowth cancer-prone syndrome, the Wiedemann-Beck-with syndrome (WBS). We have demonstrated uniparental disomy (UPD) for paternal chromosome 11p markers in 5 out of 25 sporadic cases (20%). Delineation of the extent of the disomy re...

Topics

Adult
Alleles
Beckwith-Wiedemann Syndrome
Child
Child, Preschool
Chromosomes, Human, Pair 11
Fathers
Genetic Markers
Genotype
Humans
Infant
Lymphocytes
Mosaicism

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Open in PubMed

Identifiers

PMID: 8069648
DOI: 10.1159/000472384

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8069648-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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