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Article

Uniparental disomy, isodisomy, and imprinting: probable effects in man and strategies for their detection.

American journal of medical genetics - 15 Sept 1991

Engel E, DeLozier-Blanchet C D

Abstract excerpt

The concept of uniparental disomy--the presence of a chromosome pair derived solely from one parent in a diploid offspring--was introduced in 1980 as a probable consequence of the high rate of germ cell aneuploidy in man, and has now been convincingly demonstrated through molecular analyses in several families. A most likely mechanism for the production of uniparental disomy is the chance reunion, and...

Topics

Chromosome Aberrations
Chromosome Disorders
Genome, Human
Homozygote
Humans
Phenotype

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 1746607
DOI: 10.1002/ajmg.1320400411

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1746607-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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