Molecular cytogenetic analysis of a ring-Y infertile male patient
Genet. mol. res. (Online)
;
6(1): 59-66, 2007. ilus, tab
Article
in English
| 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.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Ring Chromosomes
/
Sex Chromosome Aberrations
/
Chromosomes, Human, Y
/
Azoospermia
Type of study:
Prognostic study
Limits:
Adult
/
Humans
/
Male
Language:
English
Journal:
Genet. mol. res. (Online)
Journal subject:
Molecular Biology
/
Genetics
Year:
2007
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Hospital Santa Mônica/BR
/
Universidade Federal do Espírito Santo/BR
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