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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Vydáno v:Case Rep Genet
Hlavní autoři: Lo-A-Njoe, Shirley, van der Veken, Lars T., Vermont, Clementien, Rafael-Croes, Louise, Keizer, Vincent, Hochstenbach, Ron, Knoers, Nine, van Haelst, Mieke M.
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi Publishing Corporation 2016
Témata:
Case Report
On-line přístup: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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