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Genomic imprinting marks in the male germ line are already established in the adult germinal stem cell population. We studied the methylation patterns of H19 and MEST imprinted genes in sperm of control and oligozoospermic patients, by bisulphite genomic sequencing. We here report that 7 out of 15 (46.7%) patients with a sperm count below 10 x 10(6)/ml(More)
Microdeletions in AZFa, AZFb and AZFc regions lead to different patterns of male infertility, from severe oligozoospermia to non-obstructive azoospermia. Intrachromosomal homologous recombination mechanisms were already identified in patients with simultaneous microdeletions in the AZFb and AZFc regions. Ten patients with atypical AZFb and AZFc deletion(More)
The DAZ gene, a contributing factor in infertility, lies on the human Y chromosome's AZFc region, whose deletion is a common cause of spermatogenic failure. Y chromosome binary polymorphisms on the non-recombining Y (NRY) region, believed to be a single occurrence on an evolutionary scale, were typed in a sample of fertile and infertile men with known DAZ(More)
A de novo reciprocal translocation 46,X,t(Y;1)(q12;q12) was found in an azoospermic male with meiotic arrest. Cytogenetics and fluorescent in situ hybridization (FISH) were used to define the karyotype, translocation breakpoints and homologue pairing. SRY (Yp), Yq11.2-AZF regions, DAZ gene copies and the distal Yq12 heterochromatin were studied by PCR and(More)
Oxaliplatin is a platinum-derived antitumor drug that is active against cisplatin-resistant tumors and has lower overall toxicity than does cisplatin. DNA adduct formation is believed to mediate the cytotoxic activity of both compounds; however, the adducts may also be responsible for mutagenic and secondary tumorigenic activities. In this study, we have(More)
OBJECTIVE To characterize the deletion patterns and its breakpoints in oligozoospermic patients presenting AZFb and AZFc microdeletions and to understand the recombination mechanisms underlying these microdeletions. DESIGN Case report. SETTING Genetics Department of Faculty of Medicine of Porto, Porto, Portugal. PATIENT(S) Two men with severe(More)
A prenatal diagnosis of adult polycystic kidney disease (ADPKD) by DNA testing is reported. Evidence showing a linkage between the disease and the DNA markers on chromosome 16 was obtained in the family by linkage analysis and homogeneity testing with Italian families of the linked type. Prenatal diagnosis was performed either by polymerase chain reaction(More)
CGH analysis, making it a powerful tool for detecting genome-wide copy number and copy-neutral genetic aberrations. Now, the platform has been extended to support hematologic cancer research. Algorithms developed for the concurrent analysis of CGH and SNP probes now support the analysis of samples with the genomic complexity often observed in cancers as a(More)
In Greek mythology, the river Styx is a river that formed the boundary between earth and the underworld or Hades, the abode of the dead. The ferryman of the river Styx was called Charon, a personification of the decision-making process between life and death. According to some versions of the myth, the river Styx had miraculous powers and could make someone(More)