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Article

A de novo 8q22.2-24.3 duplication in a patient with mild phenotype.

European journal of medical genetics - 1 Jan 2012

Concolino D, Iembo M A, Moricca M T, Rapsomaniki M, Marotta R, Galesi O, Fichera M, Romano C, Strisciuglio P

Abstract excerpt

We report a new case of 8q interstitial duplication in a patient with dysmorphic features, umbilical hernia, cryptorchidism, short stature, congenital heart defect and mild mental retardation (MR). Chromosome analysis with high resolution QFQ bands showed 46,XY, 8q+, which was interpreted as a partial duplication of the distal long arm of chromosome 8 (q22 → qter). This chromosomal aberration was further...

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PMID: 21971480
DOI: 10.1016/j.ejmg.2011.09.001

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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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