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Article

Trisomy 4 mosaicism: Delineation of the phenotype.

American journal of medical genetics. Part A - 1 Apr 2016

Bouman Arjan, van der Kevie-Kersemaekers Anne-Marie, Huijsdens-van Amsterdam Karin, Dahhan Nordin, Knegt Lia, Vansenne Fleur, Cobben Jan Maarten

Abstract excerpt

Trisomy 4 mosaicism in liveborns is very rare. We describe a 17-month-old girl with trisomy 4 mosaicism. Clinical findings in this patient are compared to previously reported patients. Based on the few descriptions available in the literature the common phenotype of trisomy 4 mosaicism seems to consist of IUGR, low birth weight/length/OFC, congenital heart defects, characteristic thumb anomalies...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26789019
DOI: 10.1002/ajmg.a.37522

Provenance

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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