2008年5月
Monosomy and trisomy of 15q24-qter with cleft lip and palate
INTERNATIONAL JOURNAL OF ORAL AND MAXILLOFACIAL SURGERY
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- 巻
- 37
- 号
- 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
- ID情報
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- DOI : 10.1016/j.ijom.2007.10.003
- ISSN : 0901-5027
- Web of Science ID : WOS:000256225100016