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

doi:10.11852/zgetbjzz2022-0315

中国儿童保健杂志 ›› 2023, Vol. 31 ›› Issue (8): 909-912.DOI: 10.11852/zgetbjzz2022-0315

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

吴琼¹, 孔辉¹, 陈晶²

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

收稿日期:2022-03-16 修回日期:2023-03-02 发布日期:2023-08-18
通讯作者: 陈晶,E-mail: chenjing8469899@126.com
作者简介:吴琼(1973-),男,湖北人,副主任技师,硕士研究生,主要研究方向为遗传学、产前诊断、遗传咨询。
基金资助:
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)

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

WU Qiong¹, KONG Hui¹, CHEN Jing²

1. Central Laboratory, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen, Fujian 361003, China;
2. Department of Child Health, Women and Children's Hospital, School of Medicine, Xiamen University, Xiamen, Fujian 361003, China

Received:2022-03-16 Revised:2023-03-02 Published:2023-08-18
Contact: CHEN Jing, E-mail: chenjing8469899@126.com

摘要/Abstract

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。

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

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.

Key words: small supernumerary marker chromosomes, fluorescence in situ hybridization, sex determining region of Y-chromosome, Turner's syndrome

中图分类号:

R725.9

吴琼, 孔辉, 陈晶. 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[J]. 中国儿童保健杂志, 2023, 31(8): 909-912.

WU Qiong, KONG Hui, CHEN Jing. Clinical and cytogenetic study on two patients of Turner Syndrome with small supernumerary marker chromosomes[J]. Chinese Journal of Child Health Care, 2023, 31(8): 909-912.

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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

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