論文

査読有り 国際誌
2017年12月30日

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

Human Genome Variation
  • Hiroaki Hanafusa
  • Naoya Morisada
  • Yusuke Ishida
  • Ryosuke Sakata
  • Keiichi Morita
  • Shizu Miura
  • Ming Juan Ye
  • Toshiyuki Yamamoto
  • Nobuhiko Okamoto
  • Kandai Nozu
  • Kazumoto Iijima
  • 全て表示

4
開始ページ
17050
終了ページ
17050
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1038/hgv.2017.50
出版者・発行元
Springer Nature

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 delay, and distinctive facial features without feeding problems. The deleted region was identified by array-based comparative genomic hybridization and is the smallest reported for a 20q11.2 microdeletion.

リンク情報
DOI
https://doi.org/10.1038/hgv.2017.50
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/29214040
PubMed Central
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5707190
URL
http://orcid.org/0000-0002-9484-3505
ID情報
  • DOI : 10.1038/hgv.2017.50
  • ORCIDのPut Code : 39149839
  • PubMed ID : 29214040
  • PubMed Central 記事ID : PMC5707190

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