Cellular and molecular genetic analysis of sex chromosome chimerism and dicentric isochromosome structural abnormalities: a report of two cases

Q4 Medicine

中华围产医学杂志 Pub Date : 2019-11-16 DOI:10.3760/CMA.J.ISSN.1007-9408.2019.11.005

Jian Zhang, Yunrong Ma, Xian-ying Lei, Shuang-Yang Zhang, Yuanyuan Liu, Lulu Guo, Shiyu Zheng, Jingjing Pan

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引用次数: 0

Abstract

Objective To investigate the value of karyotype analysis, bacterial artificial chromosomes-on-beads (BoBs), chromosome microarray analysis (CMA) and fluorescence in situ hybridization (FISH) in the diagnosis of sex chromosome numerical and structural abnormalities. Methods Conventional G-banding staining technique was used to analyze the karyotypes of amniotic fluid cells and parental peripheral blood cells in two pregnancies with prenatal diagnosis indications. Sex chromosome numerical and structural abnormalities were analyzed based on the results of G-banding, BoBs, CMA and FISH. Results The results of G-banding karyotype analysis showed that there were mosaics in amniotic fluid cells collected from both cases. Karyotype of Case A was 45,X[25]/46,X,idic(Y)(q11.2?)[6], and Case B was 45,X[39]/46,X,psu idic(X)(q21.32?)[44]. Parental peripheral blood karyotypes of both families were normal. Prenatal BoBs indicated copy number abnormalities in sex chromosomes (Y chromosome in Case A and X chromosome in Case B). CMA results suggested a 20.1 Mb duplication in Yp11.32q11.222, and a 7.7 Mb deletion in Yq11.222q11.23 in fetus A with possible karyotype of 46,X,idic(Y)(q11.222); for fetus B, a 92.0 Mb duplication in Xp22.33q21.32, and a 63.0 Mb deletion in Xq21.32q28 were detected, and the karyotype might be 46,X,psu idic(X)(q21.32). The mid-term FISH test of amniotic fluid cells showed that 90% of the amniotic cells from Case A were 45,X, and 10% were 46,X,idic(Y)(q11.2); about 38% were 45,X, and 62% were 46,X,psu dic(X)(q21.3) from Case B. Conclusions Numerical and structural abnormalities of sex chromosomes could be accurately diagnosed by combination of several methods including G-banding karyotype analysis, prenatal BoBs, CMA and FISH, which would help to effectively reduce birth defects. Key words: Sex chromosomes; Chimerism; Sex chromosome aberrations; Karyotyping; Chromosomes, artificial, bacterial; Microarray analysis; In situ hybridization, fluorescence

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性染色体嵌合和双心同工染色体结构异常的细胞和分子遗传学分析:附2例报告

目的探讨核型分析、细菌人工染色体珠上分析(BoBs)、染色体微阵列分析(CMA)和荧光原位杂交(FISH)对性染色体数量和结构异常的诊断价值。方法采用常规g带染色技术对2例有产前诊断指征的孕妇的羊水细胞和亲代外周血细胞进行核型分析。根据g带、BoBs、CMA和FISH结果分析性染色体数量和结构异常。结果g带核型分析显示，两例羊水细胞均存在嵌合。病例A的核型为45,X[39]/46,X, idic(Y)(q11.2?)[6]，病例B的核型为45,X[39]/46,X,psu idic(X)(q21.32?)[44]。两家系外周血核型均正常。产前BoBs提示胎儿A性染色体拷贝数异常(病例A为Y染色体，病例B为X染色体)，CMA结果提示胎儿A的Yp11.32q11.222有20.1 Mb的重复，Yq11.222q11.23有7.7 Mb的缺失，核型可能为46,X,idic(Y)(q11.222);胎儿B在Xp22.33q21.32染色体上发现92.0 Mb的重复，在Xq21.32q28染色体上发现63.0 Mb的缺失，核型可能为46,X,psu - idic(X)(q21.32)。羊水细胞中期FISH检测显示，病例A中90%的羊水细胞为45、X, 10%为46、X、idic(Y)(q11.2);病例b中45、X占38%，46、X、psu (X)(q21.3)占62%。结论结合g带核型分析、产前bob、CMA和FISH等多种方法，可以准确诊断性染色体数量和结构异常，有助于有效减少出生缺陷。关键词:性染色体;嵌合现象;性染色体畸变;核型分析;染色体，人工的，细菌的;微阵列分析;原位杂交，荧光

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来源期刊

中华围产医学杂志 Medicine-Obstetrics and Gynecology

CiteScore

0.70

自引率

0.00%

发文量

4446

期刊介绍： Chinese Journal of Perinatal Medicine was founded in May 1998. It is one of the journals of the Chinese Medical Association, which is supervised by the China Association for Science and Technology, sponsored by the Chinese Medical Association, and hosted by Peking University First Hospital. Perinatal medicine is a new discipline jointly studied by obstetrics and neonatology. The purpose of this journal is to "prenatal and postnatal care, improve the quality of the newborn population, and ensure the safety and health of mothers and infants". It reflects the new theories, new technologies, and new progress in perinatal medicine in related disciplines such as basic, clinical and preventive medicine, genetics, and sociology. It aims to provide a window and platform for academic exchanges, information transmission, and understanding of the development trends of domestic and foreign perinatal medicine for the majority of perinatal medicine workers in my country.