额外小标记染色体嵌合型特纳综合征2例的临床遗传学研究  

Clinical and cytogenetic study on two patients of Turner Syndrome with small supernumerary marker chromosomes

作　　者：吴琼[1] 孔辉 陈晶[2] WU Qiong;KONG Hui;CHEN Jing(Central Laboratory,Women and Children's Hospital,School of Medicine,Xiamen University,Xiamen,Fujian 361003,China;Department of Child Health,Women and Children's Hospital,School of Medicine,Xiamen University,Xiamen,Fujian 361003,China)

机构地区：[1]厦门大学附属妇女儿童医院,厦门市妇幼保健院中心实验室,福建厦门361003 [2]厦门大学附属妇女儿童医院,厦门市妇幼保健院儿童保健科,福建厦门361003

出　　处：《中国儿童保健杂志》2023年第8期909-912,928,共5页Chinese Journal of Child Health Care

基　　金：福建省自然科学基金引导性项目(2019D010);厦门市医疗卫生指导性项目(3502Z20214ZD1234)。

摘　　要：目的研究2例携额外小标记染色体(sSMC)特纳氏综合征(TS)患者的临床遗传学情况,探讨Y染色体性别决定区(SRY)在TS患者基因型-表型之间的作用。方法运用细胞遗传学、荧光原位杂交技术(FISH)对2例携sSMC的TS患者进行检测并对患儿临床资料进行整理分析。结果经鉴定病例1 sSMC为假等臂双着丝粒Y,核型为45,X[89]/46,X,+mar[11].ish psu dic(Y)(q11.23)(SRY++,DYZ3++);病例2 sSMC为一罕见环状X,核型为45,X[22]/46,X.ish r(X)(p11.1q13)(DXZ1+,SRY-),rev ish dim(X)(p11.2p22.3),dim(q21q28)[8]。结论通过细胞遗传及荧光原位杂交技术可以准确鉴定sSMC来源及组成,SRY阳性与否对携sSMC的TS患者表型及预后具有重要的意义。Objective To study the clinical genetics of 2 patients of Turner's syndrome(TS)carrying small supernumerary marker chromosomes(sSMC),and to explore the role of sex determining region of Y chromosome(SRY)in genotype-phenotype of TS patients.Method Cytogenetics and fluorescence in situ hybridization(FISH)were used to detect 2 TS patients with sSMC.Results sSMC of case 1 was identified as pseudoequiarm double centromeres Y with karyotype 45,X[89]/46,X,+mar[11].ish psu dic(Y)(q11.23)(SRY++,DYZ3++).Case 2 sSMC was a rare ring X with karyotype 45,X[22]/46,X.ishr(X)(p11.1q13)(DXZ1+,SRY-),rev ish dim(X)(p11.2p22.3),dim(q21q28)[8].Conclusions The origin and composition of sSMC can be accurately identified by cytogenetics and FISH.Whether SRY is positive or not is important for phenotype and prognosis of TS patients carrying sSMC.

关 键 词：额外小标记染色体 荧光原位杂交 Y染色体性别决定区 特纳综合征 

分 类 号：R725.9[医药卫生—儿科]