Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism.

doi:10.1136/jmg.2010.081919

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism.

Journal of medical genetics - 1 Mar 2011

Romanelli Valeria, Nevado Julián, Fraga Mario, Trujillo Alex Martín, Mori Maria Ángeles, Fernández Luis, Pérez de Nanclares Guiomar, Martínez-Glez Víctor, Pita Guillermo, Meneses Heloisa, Gracia Ricardo, García-Miñaur Sixto, García de Miguel Purificación, Lecumberri Beatriz, Rodríguez José Ignacio, González Neira Anna, Monk David, Lapunzina Pablo

Abstract excerpt

Molecular studies in a patient with Beckwith-Wiedemann syndrome phenotype who developed two different tumours revealed an unexpected observation of almost complete loss of heterozygosity of all chromosomes. It is shown, by means of numerous molecular methods, that the absence of maternal contribution in somatic cells is due to high-degree (∼ 85%) genome-wide paternal uniparental disomy (UPD). The observations...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Beckwith-Wiedemann Syndrome

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

Share to Chromosome Deletion

Share to Chromosomes, Human, Pair 11

Share to Diploidy

Share to Follow-Up Studies

Share to Heterozygote

Share to Neoplasms

Share to Uniparental Disomy

Source

Open in PubMed

Identifiers

PMID: 21097775
DOI: 10.1136/jmg.2010.081919

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism.PMID 21097775Read ↗

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

Mosaic uniparental disomies and aneuploidies as large structural variants of the human genome.Semantic proximity Read ↗

The consequences of uniparental disomy and copy number neutral loss-of-heterozygosity during human development and cancer.Semantic proximity Read ↗

Beckwith-Wiedemann syndrome, tumourigenesis and imprinting.Semantic proximity Read ↗

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

Pathogenesis and consequences of uniparental disomy in cancer.Semantic proximity Read ↗

The epigenetic landscape of aneuploidy: constitutional mosaicism leading the way?Semantic proximity Read ↗

Uniparental disomy and human disease: an overview.Semantic proximity Read ↗

Genome-wide paternal uniparental disomy mosaicism in a woman with Beckwith-Wiedemann syndrome and ovarian steroid cell tumour.Semantic proximity Read ↗

Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotypeSemantic proximity Read ↗

Constitutional epimutation as a mechanism for cancer causality and heritability?Semantic proximity Read ↗

Mosaicism for genome-wide paternal uniparental disomy with features of multiple imprinting disorders: diagnostic and management issues.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.