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Article

De novo interstitial deletion 2q14.1q22.1: is there a recognizable phenotype?

American journal of medical genetics. Part A - 1 Dec 2014

Greally Marie T, Robinson Eve, Allen Nicholas M, O'Donovan Donough, Crolla John A

Abstract excerpt

In this report we describe a male patient with a rare de novo interstitial deletion of chromosome 2q14.1-q22.1. His karyotype was reported as 46,XY,del(2)(q13q21) but subsequent array comparative genomic hybridization (array CGH) analysis redefined the deletion breakpoints as 2q14.1 and 2q22.1. Eight patients have been reported with deletions either within or spanning the region 2q13 or 2q14 to 2q22.1. In five...

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Identifiers

PMID: 25263257
DOI: 10.1002/ajmg.a.36786

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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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