罕见核型Turner综合征患儿的sSMC来源及临床表型分析  

Analysis of the origin of the small supernumerary marker chromosome in Turner syndrome and the clinical manifestations characteristics of a patient with a rare karyotype

作　　者：刘楠[1] 佟彤[1] 陈悦[1] 陈艳玲[1] 

机构地区：[1]天津市儿童医院儿科研究所,天津300074

出　　处：《中国优生与遗传杂志》2015年第9期51-53,F0003,共4页Chinese Journal of Birth Health & Heredity

摘　　要：目的对1例因身材矮小就诊的Turner综合征患儿所携带的额外小标记染色体(small supernumerary marker chromosome,s SMC)进行来源分析,以探讨其与患儿临床表型的相互关系。方法综合应用外周血培养染色体核型G显带、荧光原位杂交(fluorescence in situ hybridization,FISH)、聚合酶链反应(polymerase chain reaction,PCR)等技术对患者额外小标记染色体的来源进行分析。结果 G显带分析显示患者染色体核型为45,X0/46,X,-X,+mar1/46,X,-X,+mar2(62‥30‥8)。FISH结果显示两种s SMC均来源于Y染色体,较小者(mar1)呈带有单着丝粒的染色体小片段状,较大者(mar2)以双着丝粒染色体形式存在。经PCR法证实患儿s SMC中存在SRY基因片段。结论对于存在s SMC的Turner综合征患者,应进一步结合多种分子遗传学方法确认s SMC的具体来源,为进一步明确诊断、指导治疗及遗传咨询提供重要的客观依据。Objective：To identify the origin of the small supernumerary marker chromosome（s SMC）in Turner syndrome of a patient with a rare karyotype,and study the clinical manifestations characteristics. Methods：The s SMCs were analyzed with chromosome G-banding,fluorescence in situ hybridization（FISH）and Polymerase Chain Reaction（PCR）techniques. Results：G-banding analysis has suggested a 45,X0/46,X,-X,＋mar1/46,X,-X,＋mar2（62‥30‥8）karyotype of the patient.FISH revealed that the two different s SMC were derived from Y chromosome,the smaller one（mar1）was a centric minute,and the bigger one（mar2）was dicentric. PCR confirmed that the sex-determining region of Y Chromosome（SRY）was positive. Conclusion：To identify the origin of s SMC of Turner syndrome with different genetic approaches can provide useful objective information for diagnosis,treatment and genetic counseling of the Turner syndrome patient with a supernumerary marker chromosome.

关 键 词：TURNER综合征 额外小标记染色体 荧光原位杂交 聚合酶链反应 

分 类 号：R725.9[医药卫生—儿科]