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ID 115133
タイトル別表記
Chromosome 1p36 deletion syndrome detected by NGS
著者
Watanabe, Miki Tokushima University
Ono, Akemi Tokushima University
Kohmoto, Tomohiro Tokushima University
資料タイプ
学術雑誌論文
抄録
Although chromosome 1p36 deletion syndrome is considered clinically recognizable based on characteristic features, the clinical manifestations of patients during infancy are often not consistent with those observed later in life. We report a 4-month-old girl who showed multiple congenital anomalies and developmental delay, but no clinical signs of syndromic disease caused by a terminal deletion in 1p36.32-p36.33 that was first identified by targeted-exome sequencing for molecular diagnosis.
掲載誌名
Human Genome Variation
ISSN
2054345X
出版者
Springer Nature
3
開始ページ
16006
発行日
2016-05-12
権利情報
This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/
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出版社版DOI
出版社版URL
フルテキストファイル
言語
eng
著者版フラグ
出版社版
部局
医学系
技術支援部
病院