title: [Cytogenetics and Y chromosome AZF microdeletions in infertile patients with mosaic karyotype Klinefelter syndrome (46,XY/47,XXY/48, XXYY/49,XXXXY)].
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 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.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors: 1. Department of Blood Transfusion, Zhongnan Hospital of Wuhan University, Wuhan, Hubei 430071, China. litian1971@sina.com
authors: Li
authors: L
authors: Tian
authors: Jian-Wu
authors: JW
authors: Zhang
authors: Chang-Xin
authors: CX
authors: Shen
authors: Yan
authors: Y
authors: Du
authors: Xin
authors: X
authors: Zhou
mesh_terms: D046528:Chimerism; D002872:Chromosome Deletion; D041322:Chromosomes, Human, Y / Q000235:genetics; D003582:Cytogenetics; D006801:Humans; D007248:Infertility, Male; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000235:genetics*; D008297:Male; D016324:Sequence Tagged Sites; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development / Q000235:genetics*; D055815:Young Adult