MISC

2008年5月

Monosomy and trisomy of 15q24-qter with cleft lip and palate

INTERNATIONAL JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY
  • A. Abe
  • ,
  • Y. Hatano
  • ,
  • K. Kurita
  • ,
  • M. Nakano
  • ,
  • M. Shimizu
  • ,
  • T. Yokoi
  • ,
  • N. Sugiyama

37
5
開始ページ
487
終了ページ
490
記述言語
英語
掲載種別
DOI
10.1016/j.ijom.2007.10.003
出版者・発行元
CHURCHILL LIVINGSTONE

Chromosome 15 aberrations clinically present as facial dysmorphisms such as a prominent nose, low-set ears, micrognathia and a short neck; a cleft lip and palate have not been reported. This is the first reported case of de-novo terminal deletion at 15q24 with a cleft lip and palate and low-set cars. The baby boy had a complete cleft lip and palate on the left side and incomplete cleft lip and palate on the right. A chromosomal study revealed partial monosomy and trisomy of the long arm of chromosome 15, with a karyotype of 46,XY,add(15)(24q) de novo. Surgery for lip plasty was performed at 6 months old and for palate plasty at I year and 9 months. Both operations were uneventful, although preoperative and postoperative examinations showed high creatinine phosphokinase values. At 3 years old, mild mental retardation was observed, but his physical development was normal.

リンク情報
DOI
https://doi.org/10.1016/j.ijom.2007.10.003
Web of Science
https://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=JSTA_CEL&SrcApp=J_Gate_JST&DestLinkType=FullRecord&KeyUT=WOS:000256225100016&DestApp=WOS_CPL
ID情報
  • DOI : 10.1016/j.ijom.2007.10.003
  • ISSN : 0901-5027
  • Web of Science ID : WOS:000256225100016

エクスポート
BibTeX RIS