荧光原位杂交与染色体微阵列分析技术在胎儿标记染色体产前诊断中的应用

张文玲; 王晓菲; 付玉荣; 汪伟伟; 刘晓婷; 张晨晰; 张立文

doi:10.3969/j.issn.2095-5227.2019.09.003

荧光原位杂交与染色体微阵列分析技术在胎儿标记染色体产前诊断中的应用

Fluorescence in situ hybridization and chromosome microarray analysis in prenatal diagnosis of fetal small supernumerary marker chromosomes

摘要

摘要:
目的明确标记染色体来源与性质，探讨染色体核型分析、荧光原位杂交、染色体微阵列分析等联合应用在产前诊断中的价值。
方法应用荧光原位杂交、染色体微阵列分析技术，对2014 - 2018年本中心产前诊断中心染色体核型分析无法明确诊断的4例胎儿标记染色体进一步分析。
结果 4例胎儿标记染色体分别明确为r(2)2p12q11.22、i(12)(p10)、i(18)(p10)、del(Y)(q11.2)/psu dic(Y)(q11.2)。
结论通过细胞分子遗传学技术的联合应用可以明确标记染色体来源与性质，为产前遗传咨询提供科学、准确的依据。

Abstract:
Objective To clarify the source and nature of small supernumerary marker chromosomes, and explore the application value of karyotype analysis, fluorescence in situ hybridization and chromosome microarray analysis in prenatal diagnosis.
Methods Fluorescence in situ hybridization and chromosome microarray analysis were used to analyze 4 cases with fetal small supernumerary marker chromosomes that could not be clearly identified by karyotype analysis in the prenatal diagnosis center of our hospital from 2014 to 2018.
Results The fetal small supernumerary marker chromosomes were identified as r(2)2p12q11.22, i(12)(p10), i(18)(p10), del(Y)(q11.2)/psu dic(Y)(q11.2) in 4 cases, respectively.
Conclusion The combination of cellular and molecular genetics technology can clarify the source and nature of small supernumerary marker chromosomes, and provide scientific and accurate evidences for prenatal genetic counseling.

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