Molecular cytogenetic analysis of a ring-Y infertile male patient
Genet. mol. res. (Online)
;
6(1): 59-66, 2007. ilus, tab
Artigo
em Inglês
| LILACS
| ID: lil-456751
ABSTRACT
In the present study, we report on the case of a 43-year-old male patient seeking for fertility assistance, who showed a seminal analysis and testicular biopsy of complete azoospermia. Peripheral blood culture for chromosome studies revealed a karyotype of 46 chromosomes with a ring-Y-chromosome that lost the long arm heterochromatin. Molecular analysis of genomic DNA from the patient detected the presence of the sex-determining region of the Y-chromosome (SRY) but the complete absence of regions involved in spermatogenesis (AZFa, AZFb, AZFc). Several molecular markers distributed along the Y-chromosome were tested through PCR amplification, and a breakpoint was established close to the centromere, predicting the deletion of the growth control region, in agreement with the short stature observed in this patient. All results obtained through molecular cytogenetic characterization are in accordance with the clinical features observed in this patient.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Cromossomos em Anel
/
Aberrações dos Cromossomos Sexuais
/
Cromossomos Humanos Y
/
Azoospermia
Tipo de estudo:
Estudo prognóstico
Limite:
Adulto
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Genet. mol. res. (Online)
Assunto da revista:
Biologia Molecular
/
Genética
Ano de publicação:
2007
Tipo de documento:
Artigo
País de afiliação:
Brasil
Instituição/País de afiliação:
Hospital Santa Mônica/BR
/
Universidade Federal do Espírito Santo/BR
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