摘要
目的对1例精神运动发育迟缓、双足3~4趾并趾畸形的患儿进行分子细胞遗传学分析.方法对患儿进行外周血染色体G显带核型和染色体微阵列分析.结果患儿染色体核型为46,XY,r(18)[52]/45,XY,-18[3],染色体微阵列分析的结果显示其18q21.32-q23区发生了19.85 Mb的缺失,涉及CTDP1、TXNL4A、TSHZ1、PIGN、RTTN、TNFRSF11A、KDSR、CYB5A等99个功能基因.结论18号环状染色体的临床表现与缺失/重复的范围以及涉及的功能基因有关.核型分析可以诊断环状染色体综合征,而染色体微阵列分析则可以确定缺失/重复的大小以及涉及的基因.
Objective To explore the genetic basis for a child with developmental delay and congenital syndactyly.Methods G-banding chromosomal karyotyping and chromosomal microarray analysis(CMA)were performed on peripheral blood sample from the child.Results The child was ascertained as 46,XY,r(18)[52]/45,XY,?18[3].A 18q21.32-q23 deletion was identified by CMA with a size of 19.85 Mb,which has encompassed 99 genes including CTDP1,TXNL4A,TSHZ1,PIGN,RTTN,TNFRSF11A,KDSR and CYB5A.Conclusion Clinical phenotype of the patient with ring chromosome 18 is associated with the size of the euchromatin loss and involved genes.As a useful complement to conventional karyotyping,CMA has provided an powerful tool for delineating complex chromosomal aberrations.
作者
律玉强
王兴翠
张开慧
高敏
马健
刘雪梅
盖中涛
刘毅
Lyu Yuqiang;Wang Xingcui;Zhang Kaihui;Gao Min;Ma Jian;Liu Xuemei;Gai Zhongtao;Liu Yi(Jinan Pediatric Research Institute,Qilu Children’s Hospital of Shandong University,Jinan,Shandong 250022,China;Department of Nephrology and Rheumatology,Qilu Children’s Hospital of Shandong University,Jinan,Shandong 250022,China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2019年第10期1010-1014,共5页
Chinese Journal of Medical Genetics
基金
山东省卫生厅科技项目(2013WSA01016).
作者简介
律玉强,对本文有同等贡献;王兴翠,对本文有同等贡献;通信作者:刘毅,Email:liuyi-ly@126.com
