The smallest de novo 20q11.2 microdeletion causing intellectual disability and dysmorphic features

The 20q11.2 microdeletion is a rare chromosomal aberration characterized by intellectual disability (ID), motor developmental delay, neonatal feeding problems, and facial dysmorphism. Here, a 2-year- and 6-month-old Japanese girl with a 1.2 Mb microdeletion of 20q11.2 showed ID, motor developmental...

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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Hanafusa, Hiroaki, Morisada, Naoya, Ishida, Yusuke, Sakata, Ryosuke, Morita, Keiichi, Miura, Shizu, Ye, Ming Juan, Yamamoto, Toshiyuki, Okamoto, Nobuhiko, Nozu, Kandai, Iijima, Kazumoto
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5707190/
https://ncbi.nlm.nih.gov/pubmed/29214040
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2017.50
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