論文

査読有り 国際誌
2019年12月

Narrowing down the region responsible for 1q23.3q24.1 microdeletion by identifying the smallest deletion

Human Genome Variation
  • Takao Hoshina
  • ,
  • Toshiyuki Seto
  • ,
  • Taro Shimono
  • ,
  • Hiroaki Sakamoto
  • ,
  • Torayuki Okuyama
  • ,
  • Takashi Hamazaki
  • ,
  • Toshiyuki Yamamoto

6
1
開始ページ
47
終了ページ
47
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1038/s41439-019-0079-1
出版者・発行元
Springer Science and Business Media {LLC}

Interstitial deletions of 1q23.3q24.1 are rare. Here, chromosomal microarray testing identified a de novo microdeletion of arr[GRCh37]1q23.3q24.1(164816055_165696996) × 1 in a patient with moderate developmental delay, hearing loss, cryptorchidism, and other distinctive features. The clinical features were common to those previously reported in patients with overlapping deletions. The patient's deletion size was 881 kb-the smallest yet reported. This therefore narrowed down the deletion responsible for the common clinical features. The deleted region included seven genes; deletion of LMX1A, RXRG, and ALDH9A1 may have caused our patient's neurodevelopmental delay.

リンク情報
DOI
https://doi.org/10.1038/s41439-019-0079-1
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/31645985
PubMed Central
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804575
ID情報
  • DOI : 10.1038/s41439-019-0079-1
  • ORCIDのPut Code : 63329156
  • PubMed ID : 31645985
  • PubMed Central 記事ID : PMC6804575

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