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Article

Partial hexasomy for the Prader-Willi-Angelman syndrome critical region due to a maternally inherited large supernumerary marker chromosome.

American journal of medical genetics. Part A - 1 Aug 2010

Hoppman-Chaney Nicole L, Dawson D Brian, Nguyen Lai, Sengupta Sunanda, Reynolds Kara, McPherson Elizabeth, Velagaleti Gopalrao

Abstract excerpt

Extra copies of the Prader-Willi-Angelman syndrome critical region (PWASCR) have been shown to have detrimental phenotypic effects depending on the parent of origin. Hexasomy for the PWASCR is rare; only 6 cases have been described to date. We report on a 15-year-old girl referred for developmental delay and seizures with a mosaic tricentric small marker chromosome (SMC) 15 identified by routine G-banding...

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Identifiers

PMID: 20602489
DOI: 10.1002/ajmg.a.33483

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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