De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies

Proximal duplications of chromosome 1q are rare chromosomal abnormalities. Most patients with this condition present with neurological, urogenital, and congenital heart disease and short life expectancy. Mosaicism for trisomy 1q10q23.3 has only been reported once in the literature. Here we discuss a...

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Detalhes bibliográficos
Publicado no:Case Rep Genet
Main Authors: Lo-A-Njoe, Shirley, van der Veken, Lars T., Vermont, Clementien, Rafael-Croes, Louise, Keizer, Vincent, Hochstenbach, Ron, Knoers, Nine, van Haelst, Mieke M.
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2016
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4752968/
https://ncbi.nlm.nih.gov/pubmed/26942023
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2016/2861653
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