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Prevalence of Y chromosome deletions in a Brazilian population of nonobstructive azoospermic and severely oligozoospermic men BJMBR
SãoPedro,S.L.; Fraietta,R.; Spaine,D.; Porto,C.S.; Srougi,M.; Cedenho,A.P.; Avellar,M.C.W..
We determined the prevalence of Y chromosome deletions in a population of 60 Brazilian nonobstructive azoospermic and severely oligozoospermic men. PCR-based screening of microdeletions was performed on lymphocyte DNA for the presence of 14 sequence-tagged sites (STS) located in the azoospermic factor (AZF) on the Yq chromosome. All STS were amplified efficiently in samples from 12 fertile men tested, but failed to be amplified in samples from fertile women, indicating the specificity of PCR conditions for Yq screening. Overall, 4 of the 60 infertile patients tested (6.7%) exhibited deletion of the Y chromosome, 2 of them being severely oligozoospermic patients (P10 and P32) and 2 azoospermic men (patients P47 and P57). Patients P47 and P57 presented...
Tipo: Info:eu-repo/semantics/article Palavras-chave: Y chromosome; Microdeletions; Severe oligozoospermia; Azoospermia; Male infertility; Azoospermia factor; AZF region.
Ano: 2003 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0100-879X2003000600015
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Somatic and germ cell cytogenetic studies and AZF microdeletion screening in infertile men Genet. Mol. Biol.
Carrara,Rita C. V.; Yamasaki,Rui; Mazucatto,Luís F.; Veludo,Maria A. Llorach; Sartorato,Edi L.; Pina-Neto,João M..
Clinical and cytogenetic studies were performed in 65 infertile individuals, and 56 of them were also screened for microdeletions in Yq11 (AZF region). Relevant environmental etiological factors were identified in 10 cases (15.4%). Sertoli-cell-only syndrome was diagnosed in six patients (9,2%). Karyotype abnormalities were detected in six individuals, and five other patients presented desynapsis of bivalents in meiosis. Three out of the 56 patients studied were carriers of microdeletions in the AZF region, one of them also presenting a chromosomal mosaicism for an extra i(22p).
Tipo: Info:eu-repo/semantics/article Palavras-chave: Male infertility; Cytogenetics; Microdeletions; AZF; Meiotic anomalies.
Ano: 2004 URL: http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572004000400002
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