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目的应用高通量基因测序技术在对1例嵌合型胎儿额外小标记染色体的来源和大小进行鉴定,进一步分析其遗传效应。方法对1例羊水核型分析诊断为47,XY,+mar[33]/46,XY[17]的嵌合型额外小标记染色体,应用高通量基因测序技术进行测序分析,从而确定小标记染色体的大小、具体区域范围及遗传效应。结果羊水细胞染色体核型分析结果为47,XY,+mar[33]/46,XY[17],高通量基因测序结果显示为4p12q12(46040001-571 00000)×3[60%],重复片断大小为11.06Mb。父母染色体核型分析结果正常,该额外小标记染色体为新生性,源自非近端着丝粒染色体片段4p12q12,此区域的重复可能有临床表型。结论高通量测序技术可以在基因组水平明确嵌合型额外小标记染色体的大小、具体区域范围、嵌合比例,为判断额外小标记染色体的遗传效应和产前咨询提供帮助。
Objective To identify the origin and size of additional small marker chromosomes in a chimeric fetus by high-throughput sequencing and to further analyze the genetic effects. Methods A chimeric extra small marker chromosome of 47, XY, + mar [33] / 46, XY [17] was diagnosed in 1 case of amniotic fluid karyotype analysis and sequenced with high-throughput sequencing technology to identify small markers Chromosome size, the specific area and genetic effects. Results The karyotype analysis of amniotic fluid cells was 47, XY, + mar [33] / 46, XY [17]. High-throughput sequencing showed 4p12q12 (46040001-571 00000) × 3 [60%], The size is 11.06Mb. Parents karyotype analysis was normal, and the extra small marker chromosome was neoplastic and originated from the non-proximal centromeric chromosome segment 4p12q12. The region may have a clinical phenotype for the repeat. Conclusion High-throughput sequencing can clarify the size, specific region and chimerism of chimeric additional small marker chromosomes at genomic level, and help to determine the genetic effect of additional small marker chromosomes and prenatal counseling.