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Article

Identification of uniparental disomy in phenotypically abnormal carriers of isochromosomes or Robertsonian translocations.

American journal of medical genetics - 1 Sept 2002

Berend Sue Ann, Bejjani Bassem A, McCaskill Christopher, Shaffer Lisa G

Abstract excerpt

Carriers of either homologous or non-homologous acrocentric rearrangements are at an increased risk for aneuploidy, and, thus, for uniparental disomy (UPD). Abnormal phenotypes due to genomic imprinting are associated with UPD for the acrocentric chromosomes 14 and 15. The purpose of this study was to determine the prevalence of UPD in a population with acrocentric rearrangements (either an isochromosome or a...

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

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Source

Identifiers

PMID: 12210293
DOI: 10.1002/ajmg.10566

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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.

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