Tian Li, Zhang Jian-Wu, Shen Chang-Xin, Du Yan, Zhou Xin
1. Department of Blood Transfusion, Zhongnan Hospital of Wuhan University, Wuhan, Hubei 430071, China.
Zhonghua Nan Ke Xue. 2012 Jun;18(6):545-50.
To observe peripheral blood chromosome abnormality and microdeletions of the SRY and AZF genes on the Y chromosome in patients with chimera Klinefelter syndrome.
We analyzed the cytogenetic karyotype of the peripheral blood chromosome in 1 infertile patient with mosaic karyotype Klinefelter 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.
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.
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.
观察嵌合型克兰费尔特综合征患者外周血染色体异常及Y染色体上SRY和AZF基因的微缺失情况。
对1例核型为嵌合型克兰费尔特综合征的不育患者及其父母的外周血染色体进行细胞遗传学核型分析。通过多重聚合酶链反应（PCR）鉴定9个序列标签位点（STS）：sY84、sY86、sY127、sY129、sY134、sY254、sY255、sY242和sY152。同时以ZFX/ZFY作为内参基因，检测SRY基因及AZF的微缺失情况。
患者核型为46,XY（12%）/47,XXY（30%）/48,XXYY（56%）/49,XXXXY（2%）。其父母核型正常。患者及其父母的SRY基因与染色体性别一致。患者存在Y染色体AZF微缺失，缺失位点为sY86和sY127，缺失类型为AZFa + AZFb。
克兰费尔特综合征患者存在Y染色体AZF微缺失。染色体核型及Y染色体AZF微缺失是克兰费尔特综合征基因诊断的重要标准。
