2017年12月30日
The smallest de novo 20q11.2 microdeletion causing intellectual disability and dysmorphic features
Human Genome Variation
- 巻
- 4
- 号
- 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
- ID情報
-
- DOI : 10.1038/hgv.2017.50
- ORCIDのPut Code : 39149839
- PubMed ID : 29214040
- PubMed Central 記事ID : PMC5707190