Li Tian, Jian-Wu Zhang, Chang-Xin Shen, Yan Du, Xin Zhou
1. Department of Blood Transfusion, Zhongnan Hospital of Wuhan University, Wuhan, Hubei 430071, China. litian1971@sina.com
Zhonghua nan ke xue = National journal of andrology 2012 JunTo 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.
Li Tian, Jian-Wu Zhang, Chang-Xin Shen, Yan Du, Xin Zhou. Cytogenetics and Y chromosome AZF microdeletions in infertile patients with mosaic karyotype Klinefelter syndrome (46,XY/47,XXY/48, XXYY/49,XXXXY)]. Zhonghua nan ke xue = National journal of andrology. 2012 Jun;18(6):545-50
PMID: 22774613
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