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Article

A case of constitutional trisomy 3 mosaicism in a teenage patient with mild phenotype.

European journal of medical genetics - 1 Nov 2016

Kekis Mariana, Hashimoto Sayaka, Deeg Carol, Calloway Inga, McKinney Aimee, Shuss Christine, Hickey Scott, Astbury Caroline

Abstract excerpt

Constitutional mosaicism for trisomy 3 is extremely rare, with only a few postnatally diagnosed cases reported in the literature. We report a case of constitutional trisomy 3 mosaicism in a 16-year-old female, who presented with chronic joint pain, easy bruising, joint hypermobility and dysmorphic features, including long, thin facies, over-folded dysplastic ears, and Pierre-Robin sequence (PRS) with cleft...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27717910
DOI: 10.1016/j.ejmg.2016.10.002

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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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