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Article

Phenotype in novel Xp duplication.

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

Salaria Manju, Burgess Trent, Setyapranata Stella, Winship Ingrid

Abstract excerpt

A novel duplication of Xp is described. A 20-year-old man had minor anomalies ichthyosis, congenital heart defect, varicose veins, and hypogonadotropic hypogonadism. He had an interstitial duplication of approximately 2.8 Mb from chromosome region Xp22.31p22.2. His similarly affected brother and asymptomatic mother were shown to carry the same duplication. Knowledge about this duplication and its resultant...

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Identifiers

PMID: 22887700
DOI: 10.1002/ajmg.a.35538

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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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