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Article

Trisomy 3 mosaicism in a 5-year-old boy with multiple anomalies: A very rare case.

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

Yang Yong-Jia, Yao Xu, Guo Jihong, Zhao Liu, Tu Ming, Qiou Jun, Zhao Rui, Luo Yongqi, Zhu Yi-Min

Abstract excerpt

Trisomy 3 mosaicism in live birth is exceedingly rare. In this study, we report a 5-year-old boy with trisomy 3 mosaicism who exhibits skeletal anomalies, atypical form of ectodermal dysplasias, refractory diarrhea, and normal intelligence. Fluorescence in situ hybridization and microsatellite marker analyses confirmed the existence of trisomy 3 mosaicism and suggested that the parental origin of the additional...

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Identifiers

PMID: 27004455
DOI: 10.1002/ajmg.a.37618

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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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