論文

査読有り
2017年1月

Partial monosomy of 10p and duplication of another chromosome in two patients

PEDIATRICS INTERNATIONAL
  • Sayaka Ohta
  • Tsuyoshi Isojima
  • Yoko Mizuno
  • Motohiro Kato
  • Masakazu Mimaki
  • Masafumi Seki
  • Yusuke Sato
  • Seishi Ogawa
  • Junko Takita
  • Sachiko Kitanaka
  • Akira Oka
  • 全て表示

59
1
開始ページ
99
終了ページ
102
記述言語
英語
掲載種別
研究論文(学術雑誌)
DOI
10.1111/ped.13181
出版者・発行元
WILEY-BLACKWELL

Partial monosomy of 10p is a rare chromosomal abnormality. Common features are hypoparathyroidism, deafness, renal anomalies, distinctive facies, and mental retardation, with phenotypic variability. We report two patients with chromosomal abnormalities identified on single-nucleotide polymorphism (SNP) array analysis. Although patient 1 had common features of monosomy10p, G-banding indicated a normal karyotype. SNP array and fluorescence in situ hybridization (FISH), however, indicated unbalanced translocation of a 10p terminal deletion of 11.7 Mb and a 15q terminal duplication of 8.2 Mb. In patient 2, SNP array and FISH indicated a 10p terminal deletion of 12.6 Mb and a 7q terminal duplication of 1.9 Mb. This is the first case report of monosomy 10p combined with trisomy 15q (patient 1). Because the clinical heterogeneity of the 10p deletion syndrome would be affected by duplication of another chromosome, we emphasize that SNP/microarray analysis is necessary to confirm genotype-phenotype correlation.

リンク情報
DOI
https://doi.org/10.1111/ped.13181
PubMed
https://www.ncbi.nlm.nih.gov/pubmed/28102624
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000394892900018&DestApp=WOS_CPL
ID情報
  • DOI : 10.1111/ped.13181
  • ISSN : 1328-8067
  • eISSN : 1442-200X
  • PubMed ID : 28102624
  • Web of Science ID : WOS:000394892900018

エクスポート
BibTeX RIS