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Article

Uniparental disomy (UPD) other than 15: phenotypes and bibliography updated.

American journal of medical genetics. Part A - 30 Jul 2005

Kotzot Dieter, Utermann Gerd

Abstract excerpt

Uniparental disomy (UPD) describes the inheritance of a pair of chromosomes from only one parent. The concept was introduced in Medical Genetics by Engel (1980); Am J Med Genet 6:137-143. Aside UPD 15, which is the most frequent one, up to now (February 2005) 197 cases with whole chromosome maternal UPD other than 15 (124 X heterodisomy, 59 X isodisomy, and 14 cases without information of the mode of UPD) and 68...

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Identifiers

PMID: 15957160
DOI: 10.1002/ajmg.a.30483

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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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