Clinical and cytogenetic analysis of 45,X/46,XY individuals / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 608-611, 2013.
Artigo
em Chinês
| WPRIM
| ID: wpr-254552
ABSTRACT
<p><b>OBJECTIVE</b>To analyze main clinical manifestations and cytogenetic characteristics of patients with a 45,X/46,XY karyotype.</p><p><b>METHODS</b>G-banding karyotype analysis was carried out. PCR was performed to detect azoospermia factor (AZF) microdeletion in adult male patients and sex-determining region on Y chromosome (SRY) gene in all patients. Clinical phenotype and genetic characteristics were summarized.</p><p><b>RESULTS</b>Among the 9 individuals with 45,X/46,XY, there have been 7 males and 2 females. Six out of the 7 males have manifested primary infertility, which included 5 with azoospermia, 1 with oligospermia, and 1 with hypospadia. Three of the 6 infertile patients were found to have AZF microdeletions. Two females showed typical Turner syndrome. All of the 9 cases were SRY-positive.</p><p><b>CONCLUSION</b>The 45,X/46,XY karyotype may result in a range of phenotypes. No correlation has been found between clinical manifestations and proportion of mosaicism cells for their peripheral blood karyotypes. As phenotypically normal male patients may produce sperm, infertile patients should undergo further examination at the molecular level.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Aberrações dos Cromossomos Sexuais
/
Análise Citogenética
/
Cromossomos Humanos X
/
Cromossomos Humanos Y
/
Genética
/
Infertilidade Feminina
/
Infertilidade Masculina
/
Cariotipagem
/
Mosaicismo
Limite:
Adolescente
/
Adulto
/
Feminino
/
Humanos
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2013
Tipo de documento:
Artigo
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