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 oligozoospermia and two men with nonobstructive azoospermia identified as having different AZFb+c deletion patterns via Y chromosome microdeletion analysis. INTERVENTION(S): Definition of microdeletions and the fine characterization of the respective breakpoints by sequence-tagged sites (STS) polymerase chain reaction (PCR) and single-nucleotide variant (SNV) PCR. MAIN OUTCOME MEASURE(S): Study of the fine structure of the Y-chromosome and discussion of the putative mechanisms involved in each microdeletion pattern. RESULT(S): From the four patients studied, three deletion patterns were identified: IR4/distal-P2 (25%; 1 of 4), P5/proximal-P1 (50%; 2 of 4), and P5/distal-P1 (25%; 1 of 4). Although severe oligozoospermia is normally associated with AZFc, a complete AZFb deletion was found in one case. CONCLUSION(S): Analysis of these patients has revealed a new putative region that may be involved in spermatogenesis conservation.
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 oligozoospermia and two men with nonobstructive azoospermia identified as having different AZFb+c deletion patterns via Y chromosome microdeletion analysis. INTERVENTION(S): Definition of microdeletions and the fine characterization of the respective breakpoints by sequence-tagged sites (STS) polymerase chain reaction (PCR) and single-nucleotide variant (SNV) PCR. MAIN OUTCOME MEASURE(S): Study of the fine structure of the Y-chromosome and discussion of the putative mechanisms involved in each microdeletion pattern. RESULT(S): From the four patients studied, three deletion patterns were identified: IR4/distal-P2 (25%; 1 of 4), P5/proximal-P1 (50%; 2 of 4), and P5/distal-P1 (25%; 1 of 4). Although severe oligozoospermia is normally associated with AZFc, a complete AZFb deletion was found in one case. CONCLUSION(S): Analysis of these patients has revealed a new putative region that may be involved in spermatogenesis conservation.
Authors: Mariano Mascarenhas; Sumi Thomas; Mohan S Kamath; Ramya Ramalingam; Ann Marie Kongari; S Yuvarani; Vivi M Srivastava; Korula George Journal: J Hum Reprod Sci Date: 2016 Jul-Sep
Authors: Gleice Cristina Dos Santos Godoy; Bianca Borsatto Galera; Claudinéia Araujo; Jacklyne Silva Barbosa; Max Fernando de Pinho; Marcial Francis Galera; Sebastião Freitas de Medeiros Journal: Clin Med Insights Reprod Health Date: 2014-08-11