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Article

Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype?

American journal of medical genetics - 15 May 1994

Bottani A, Robinson W P, DeLozier-Blanchet C D, Engel E, Morris M A, Schmitt B, Thun-Hohenstein L, Schinzel A

Abstract excerpt

The Angelman syndrome (AS) is a neurological disorder characterized by severe mental retardation, absent speech, seizures, gait disturbances, and a typical age-dependent facial phenotype. Most cases are due to an interstitial deletion on the maternally inherited chromosome 15, in the critical region q11-q13. Rare cases also result from paternal uniparental disomy of chromosome 15. In a group of 14 patients with...

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Identifiers

PMID: 8030667
DOI: 10.1002/ajmg.1320510109

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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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