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Article

De novo interstitial duplication of 15q11.2-q13.1 with complex maternal uniparental trisomy for the 15q11-q13 region in a patient with Prader-Willi syndrome.

American journal of medical genetics. Part A - 1 Oct 2012

Burrage Lindsay C, Person Richard E, Flores Angela, Villanos Maria Theresa M, Bi Weimin, Wiszniewska Joanna, Bacino Carlos A

Abstract excerpt

Prader-Willi syndrome is caused by the lack of paternal contribution for the imprinted 15q11-q13 region that originates through a number of mechanisms such as paternal deletion of 15q11-q13, maternal uniparental disomy, or by an imprinting defect due to epimutations in the paternal imprinting center. In the present report, we describe a female patient with complex maternal uniparental trisomy for the 15q11-q13...

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Identifiers

PMID: 22903639
DOI: 10.1002/ajmg.a.35549

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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