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Article

Uniparental paternal disomy in a genetic cancer-predisposing syndrome.

Nature - 20 Jun 1991

Henry I, Bonaiti-Pellié C, Chehensse V, Beldjord C, Schwartz C, Utermann G, Junien C

Abstract excerpt

The 11p15.5 region of human chromosome 11 seems to contain a locus or loci involved in congenital overgrowth anomalies as well as in the genesis of many tumours associated with the Beckwith-Wiedemann syndrome (BWS). Given the unusual differential parental allele involvement in the different aetiological forms of BWS and the loss of maternal alleles in associated tumours, we have now used 11p15.5 markers to...

Topics

Beckwith-Wiedemann Syndrome
Blotting, Southern
Cell Line
Chromosome Aberrations
Chromosome Mapping
Chromosomes, Human, Pair 11
Female
Genetic Carrier Screening
Genetic Predisposition to Disease
Genotype
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Neoplasms

Pedigree

Polymorphism, Restriction Fragment Length

Restriction Mapping

Source

Identifiers

PMID: 1675767
DOI: 10.1038/351665a0

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1675767-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Uniparental paternal disomy in a genetic cancer-predisposing syndrome.PMID 1675767Read ↗

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

Excess functional copy of allele at chromosomal region 11p15 may cause Wiedemann-Beckwith (EMG) syndrome.Semantic proximity Read ↗

Tumor development in the Beckwith-Wiedemann syndrome is associated with a variety of constitutional molecular 11p15 alterations including imprinting defects of KCNQ1OT1.Semantic proximity Read ↗

[Uniparental disomy of chromosome 11 in a patient with Beckwith-Wiedemann syndrome. First reported case in Iceland].Semantic proximity Read ↗

Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.Semantic proximity Read ↗

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Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques.Semantic proximity Read ↗

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