【摘要】 目的:观察嵌合型Klinefelter综合征的外周血染色体、Y染色体上SRY基因和AZF基因微缺失发生情况。方法:对1例嵌合型Klinefelter综合征患者及父母进行外周血染色体核型分析,确定9个实验用序列标签位点(STS),分别是:sY84、sY86、sY127、sY129、sY134、sY254、sY255、sY242、sY152,同时检测SRY基因,并以X/Y连锁锌指蛋白基因(ZFX/ZFY)为内对照进行多重PCR筛查AZF微缺失。结果:患者核型为46,XY/47,XXY/48,XXYY/49,XXXXY,其中48,XXYY占56%;47,XXY占30%;46,XY占12%;49,XXXXY占2%,患者父母核型正常;患者及父母SRY基因检测与染色体性别一致,患者检出Y染色体AZF微缺失,缺失位点为sY86和sY127,缺失类型为AZFa+AZFb缺失。结论:Klinefelter综合征患者存在Y染色体AZF微缺失,染色体核型分析和Y染色体AZF微缺失是Klinefelter综合征患者重要的遗传检测指标。更多还原

【Abstract】 Objective: To observe peripheral blood chromosome abnormality and microdeletions of the SRY and AZF genes on the Y chromosome in patients with chimera Klinefelter syndrome.Methods: We analyzed the cytogenetic karyotype of the peripheral blood chromosome in 1 infertile patient with mosaic karyotype Klinefelfer syndrome and his parents.We identified 9 sequence tagged sites(STS) by multiplex PCR: sY84,sY86,sY127,sY129,sY134,sY254,sY255,sY242,and sY152.Meanwhile we detected the SRYgene and the microdeletion of AZF using ZFX/ZFY as the internal control gene.Results: The karyotype of the patient was 46,XY(12%)/47,XXY(30%)/48,XXYY(56%)/49,XXXXY(2%).The karyotypes of his parents were normal.Consistency was found between the SRY gene and the chromosome gender in the patient and his parents.Y chromosome AZF microdeletion was observed in the patient.The deletion sites were sY86 and sY127,and the deletion type was AZFa+ AZFb.Conclusion: AZF microdeletion of the Y chromosome exists in patients with Klinefelter syndrome.Chromosome karyotype and Y-chromosome AZF microdeletion are important criteria for the genetic diagnosis of Klinefelter syndrome.更多还原