Cytogenetics and Y chromosome AZF microdeletions in infertile patients with mosaic karyotype Klinefelter syndrome (46,XY/47,XXY/48, XXYY/49,XXXXY) / 中华男科学杂志
National Journal of Andrology
;
(12): 545-550, 2012.
Artigo
em Chinês
| WPRIM
| ID: wpr-286463
ABSTRACT
<p><b>OBJECTIVE</b>To observe peripheral blood chromosome abnormality and microdeletions of the SRY and AZF genes on the Y chromosome in patients with chimera Klinefelter syndrome.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>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.</p>
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Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Aberrações dos Cromossomos Sexuais
/
Sitios de Sequências Rotuladas
/
Deleção Cromossômica
/
Citogenética
/
Cromossomos Humanos Y
/
Quimerismo
/
Transtornos do Cromossomo Sexual no Desenvolvimento Sexual
/
Genética
/
Infertilidade Masculina
/
Cariotipagem
Tipo de estudo:
Estudo prognóstico
Limite:
Humanos
/
Masculino
Idioma:
Chinês
Revista:
National Journal of Andrology
Ano de publicação:
2012
Tipo de documento:
Artigo
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