title: Trisomy 3 mosaicism in a 5-year-old boy with multiple anomalies: A very rare case.
abstract: 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 chromosome 3 in the trisomic cells was maternal. This report further delineated the trisomy 3 mosaicism in live births. The authors propose that both common phenotypes and phenotypic diversity exist on cases with trisomy 3 mosaicism. © 2016 Wiley Periodicals, Inc.
authors.affiliation: The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, University of South China, Changsha, China.
authors.forename: Yong-Jia
authors.initials: YJ
authors.lastname: Yang
authors.affiliation: The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, University of South China, Changsha, China.
authors.forename: Xu
authors.initials: X
authors.lastname: Yao
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, China.
authors.forename: Jihong
authors.initials: J
authors.lastname: Guo
authors.affiliation: The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, University of South China, Changsha, China.
authors.forename: Liu
authors.initials: L
authors.lastname: Zhao
authors.affiliation: The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, University of South China, Changsha, China.
authors.forename: Ming
authors.initials: M
authors.lastname: Tu
authors.affiliation: The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, University of South China, Changsha, China.
authors.forename: Jun
authors.initials: J
authors.lastname: Qiou
authors.affiliation: The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, University of South China, Changsha, China.
authors.forename: Rui
authors.initials: R
authors.lastname: Zhao
authors.affiliation: The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, University of South China, Changsha, China.
authors.forename: Yongqi
authors.initials: Y
authors.lastname: Luo
authors.affiliation: The Laboratory of Genetics and Metabolism, Hunan Children's Research Institute (HCRI), Hunan Children's Hospital, University of South China, Changsha, China.
authors.forename: Yi-Min
authors.initials: YM
authors.lastname: Zhu
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics*; D002675:Child, Preschool; D002871:Chromosome Banding; D058674:Chromosome Duplication; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009030:Mosaicism; D010641:Phenotype; D014314:Trisomy
keywords: atypical form of ectodermal dysplasias; multiple anomalies; refractory diarrhea; short stature; trisomy 3 mosaicism