13号环状染色体综合征1例报告及文献复习  

Case Report of Ring Chromosome 13 and Literature Review

作　　者：吕娟娟[1] 魏虹[1] 梁雁[1] 王慕逖[1] 罗小平[1] 

机构地区：[1]华中科技大学同济医学院附属同济医院儿科,武汉430030

出　　处：《实用儿科临床杂志》2007年第20期1556-1557,1600,共3页Journal of Applied Clinical Pediatrics

基　　金："十五"国家科技攻关计划项目资助(2004BA720A01);卫生部临床学科重点项目资助

摘　　要：目的探讨13号环状染色体综合征的进展。方法对1例13号环状染色体综合征患儿的症状、体征和影像学检查进行分析,应用染色体常规G显带和C显带技术进行分析,并通过文献复习对13号环状染色体综合征患儿例进行回顾分析。结果本例患儿智力及语言发育落后、生长迟缓;小头畸形、内眦赘皮、眼距宽、腭弓高尖、颈短、耳位低、左手通贯掌;头颅CT、MRI未见异常,心脏彩超、腹部B超均未见异常;患儿核型为45,XX,-13/46,XX,r(13;13)(13;13q21.2→32);环状染色体中的1条只保留了q21.2→32片断。患儿双亲核型正常。结论本例患儿核型是1种少见的13号环状嵌合体;13号环状染色体综合征临床表型多样,与断裂点之间的关系仍不明确;13号环状染色体长臂缺失可分为4类;新着丝粒在有丝分裂和减数分裂过程中起重要作用。Objective To explore the research progress of ring chromosome 13 syndrome. Methods Clinical symptoms and signs were documented from a female patient and image studies were conducted. Karyotyping analysis was carried out with G banding and C banding for tbe patient and her parents. Results The patient presented with mental, language and growth retardation. The head CT and MR1 scan, as well as abdominal and cardiac ultrasonography were normal. The patient＇s karyotype was 45, XX, - 13/46, XX, r （ 13 ; 13 ）, a mosaic of one norreal chromosome 13 and the olher chromosome 13 with band q21.2→32 reminded and formed a ring. Karyolypes of her patient＇s were all normal. Conclusions The patient＇s karyotype was a rare ring mosaicism of 13 chromosome. Clinical manifestation was diverse and the relationship between pbenotype and tbe breakpoint on chromosome 13 was still vague. Deletion of 13q can be clarified into 4 categories. Neoeentromere plays a very important role in mitosis and meiosis.

关 键 词：13号环状染色体 嵌合体 文献回顾 新着丝粒 

分 类 号：R725.9[医药卫生—儿科]