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Article

Inherited duplication of Xq27.2-->qter: phenocopy of infantile Prader-Willi syndrome.

Clinical dysmorphology - 1 Apr 2001

Lammer E J, Punglia D R, Fuchs A E, Rowe A G, Cotter P D

Abstract excerpt

A male is described with familial duplication of the distal long arm of the X chromosome (Xq27.2-->qter) at the distal short arm (Xp22.3). The proband has features of the male Prada-Willi syndrome phenotype that have not previously been reported in other males with duplication of Xq27-->qter.

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Identifiers

PMID: 11310995
DOI: 10.1097/00019605-200104000-00012

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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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