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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Dades bibliogràfiques
Publicat a:Case Rep Genet
Autors principals: Lo-A-Njoe, Shirley, van der Veken, Lars T., Vermont, Clementien, Rafael-Croes, Louise, Keizer, Vincent, Hochstenbach, Ron, Knoers, Nine, van Haelst, Mieke M.
Format: Artigo
Idioma:Inglês
Publicat: Hindawi Publishing Corporation 2016
Matèries:
Case Report
Accés en línia: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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