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。
Abstract
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
Key words
small supernumerary marker chromosomes /
fluorescence in situ hybridization /
sex determining region of Y-chromosome /
Turner's syndrome
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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)
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