先天性膈疝伴 1q 染色体纯合重复：首例存活病例报告。

Congenital diaphragmatic hernia with a pure duplication of chromosome 1q: report of the first surviving case.

作者信息

Otake Kohei, Uchida Keiichi, Inoue Mikihiro, Koike Yuhki, Matsushita Kohei, Miki Chikao, Sugiyama Takashi, Kusunoki Masato

机构信息

Department of Gastrointestinal and Pediatric Surgery, Mie University Graduate School of Medicine, Edobashi 2-174, Tsu, Mie 514-8507, Japan.

出版信息

Pediatr Surg Int. 2009 Sep;25(9):827-31. doi: 10.1007/s00383-009-2421-z. Epub 2009 Jul 24.

DOI:10.1007/s00383-009-2421-z

PMID:19629498

Abstract

Congenital diaphragmatic hernia (CDH) occurs in multiple malformation syndromes and associations, and has been associated with cytogenetic aberrations on almost every chromosome arm. However, CDH with a duplication of chromosome 1q is very rare in the literature, and all previously reported cases with detailed clinical courses died soon after birth. We present the first surviving case of CDH with a duplication of 1q12-q23, who had arthrogryposis multiplex congenita and hypertrophic cardiomyopathy. CDH patients with a proximal duplication of chromosome 1q may have a chance for survival, and CDH with a duplication of chromosome 1q is not necessarily a lethal association.

摘要

先天性膈疝（CDH）发生于多种畸形综合征及相关疾病中，几乎与每一条染色体臂上的细胞遗传学畸变均有关联。然而，文献中1q染色体重复所致的CDH极为罕见，且既往所有报道的伴有详细临床病程的病例均于出生后不久死亡。我们报告了首例存活的1q12-q23重复所致的CDH病例，该病例伴有多发性先天性关节挛缩症和肥厚型心肌病。1q染色体近端重复的CDH患者可能有存活机会，且1q染色体重复所致的CDH不一定是致死性关联。