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Article

De novo interstitial duplication of the 15q11.2-q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literature.

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

Kitsiou-Tzeli Sophia, Tzetis Maria, Sofocleous Christalena, Vrettou Christina, Xaidara Athena, Giannikou Krinio, Pampanos Andreas, Mavrou Ariadne, Kanavakis E

Abstract excerpt

The 15q11-q13 PWS/AS critical region involves genes that are characterized by genomic imprinting. Multiple repeat elements within the region mediate rearrangements, including interstitial duplications, interstitial triplications, and supernumerary isodicentric marker chromosomes, as well as the deletions that cause Prader-Willi syndrome (PWS) and Angelman syndrome (AS). Recently, duplications of maternal origin...

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Identifiers

PMID: 20575009
DOI: 10.1002/ajmg.a.33447

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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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