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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Detaylı Bibliyografya
Yayımlandı:Case Rep Genet
Asıl Yazarlar: Lo-A-Njoe, Shirley, van der Veken, Lars T., Vermont, Clementien, Rafael-Croes, Louise, Keizer, Vincent, Hochstenbach, Ron, Knoers, Nine, van Haelst, Mieke M.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Hindawi Publishing Corporation 2016
Konular:
Case Report
Online Erişim: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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