应用Affymetrix SNP Array和FISH技术确认胎儿额外小标记染色体r（4）4p13q13.3
Application of Affymertrix SNP array and FISH analysis in identification of small supernumerary marker chromosome of r（4）4p13q13.3
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摘要: 目的 利用AffymetriSNP Array和FISH技术鉴定额外小标记染色体的来源。 方法 2013年7月1例38岁高龄孕妇来我院就诊, 进行羊水染色体核型分析, G显带检测羊水和脐血胎儿染色体核型, 应用AffymetrixCytoScan 750K Array基因芯片技术鉴定额外小标记染色体的片段与来源, 然后运用WSH/D4Z1探针的FISH进行确认。 结果 胎儿羊水G显带染色体核型为46, XX15/47, XX, +mar15, 脐血G显带染色体核型为46, XX14/47, XX, +mar16;AffymetrixCytoScan 750K Array基因芯片分析结果为arr 4p13q13.3 (41, 593, 201-72, 130, 692) X2-3, 显示胎儿有4号染色体4p13-着丝粒-q13.3区段30.537 Mb的嵌合性重复;胎儿脐血细胞FISH检测显示28%间期细胞有4号染色体着丝粒的三体性。 结论 综合应用染色体G-显带核型分析、FISH技术和AffymetrixCytoScan 750K Array芯片技术能准确确认额外微小标记染色体的来源及其片段的界定。Abstract: Objective To identify the origin of small supernumerary marker chromosomes（sSMC） by Affymetrix SNP array and FISH analysis. Methods Chromosome karyotype in amniotic fluid and umbilical cord blood from a 38 years old pregnant woman who visited our hospital in July 2013 was detected by G-binding analysis. The fragments and origin of sSMC were identified by AffymetrixCytoScan 750 K array followed by FISH analysis using probe WSH/d4z1. Results G-binding analysis showed a chromosome karyotype of 46, XX15 /47, XX, +mar15 in amniotic fluid and a chromosome karyotype of 46, XX14 /47, XX, +mar16 in umbilical cord blood. AffymetrixCytoScan 750 K array showed a chromosome fragment of arr 4p13q13.3（41,593,201-72,130,692）X2-3 in amniotic fluid and a 30.537 Mb long chromosome fragment of 4p13-4q13.3 with a repeated mosaic in umbilical cord blood. FISH analysis showed that 28% interphase cells in umbilical cord blood displayed a trisomy. Conclusion Combining G banding analysis with FISH analysis and AffymetrixCytoScan 750 K array can accurately identify the origin and fragments of sSMC.
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