Cytogenetics and Y chromosome AZF microdeletions in infertile patients with mosaic karyotype Klinefelter syndrome (46,XY/47,XXY/48, XXYY/49,XXXXY).
- Author:
Li TIAN
1
;
Jian-Wu ZHANG
;
Chang-Xin SHEN
;
Yan DU
;
Xin ZHOU
Author Information
- Publication Type:Case Reports
- MeSH: Chimerism; Chromosome Deletion; Chromosomes, Human, Y; genetics; Cytogenetics; Humans; Infertility, Male; Karyotyping; Klinefelter Syndrome; genetics; Male; Sequence Tagged Sites; Sex Chromosome Aberrations; Sex Chromosome Disorders of Sex Development; genetics; Young Adult
- From: National Journal of Andrology 2012;18(6):545-550
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo observe peripheral blood chromosome abnormality and microdeletions of the SRY and AZF genes on the Y chromosome in patients with chimera Klinefelter syndrome.
METHODSWe 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.
RESULTSThe 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.
CONCLUSIONAZF 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.
