Turner综合征患儿额外小标记染色体的来源及形态学特点  

Origin and morphological features of small supernumerary marker chromosomes in Turner syndrome

作　　者：刘楠[1] 佟彤[1] 陈悦[1] 陈艳玲[1] 蔡春泉[1] 

机构地区：[1]天津市儿童医院,300134

出　　处：《中华医学遗传学杂志》2018年第1期43-46,共4页Chinese Journal of Medical Genetics

基　　金：天津市卫生行业重点攻关项目（16KG166）

摘　　要：目的分析Turner综合征患儿额外小标记染色体的来源与形态。方法对于经过G显带染色体核型分析发现的5例带有额外小标记染色体的Turner综合征患儿，用双色荧光原位杂交技术进一步明确其额外小标记染色体的来源与形态。结果5例患儿中有3例的额外小标记染色体来源于x染色体，2例患儿的额外小标记染色体来源于Y染色体。其中3例为X染色体来源的额外小标记染色体，2例为环状染色体，1例为染色体小片段状。标记染色体2例Y染色体来源的额外小标记染色体中，1例以环状染色体和带有双着丝粒的染色体两种形态存在，另1例为双着丝粒染色体。结论存在额外小标记染色体的Turner综合征患儿，其标记染色体多数来源于性染色体，来源于x染色体的额外小标记染色体主要以环状形式存在，其次为染色体小片段；来源于Y染色体的额外小标记染色体主要以双着丝粒染色体形式存在，其次为环状染色体。对于带有额外小标记染色体的Turner综合征患儿，应进一步采用双色荧光原位杂交技术鉴定额外小标记染色体的来源，以指导遗传咨询及临床诊治方案的制定。Objective To explore the origin and morphological features of small supernumerary marker chromosomes （sSMCs） in Turner syndrome. Methods For 5 cases of Turner syndrome with a sSMC identified by conventional G-banding, dual-color fluorescence in situ hybridization （FISH） was applied to explore their origin and morphological features. Results Among the 5 cases, 3 have derived from the X chromosome, which included 2 ring chromosomes and 1 centric minute. For the 2 sSMCs derived from the Y chromosome, 1 was ring or isodicentric chromosome, while the other was an isodicentric chromosome. Conclusion The sSMCs found in Turner syndrome have almost all derived from sex chromosomes. The majority of sSMCs derived from the X chromosome will form ring chromosomes, while a minority will form centric minute. While most sSMC derived from Y chromosome may exist as isodicentric chromosomes, and a small number may exist as rings. For Turner syndrome patients with sSMCs, dualcolor FISH may be used to delineate their origins to facilitate genetic counseling and selection of clinical regime.

关 键 词：TURNER综合征 额外小标记染色体 荧光原位杂交 

分 类 号：R725.9[医药卫生—儿科]