title: Meiotic segregation study of a novel t(3;6)(q21;q23) in an infertile man using fluorescence in situ hybridization (FISH).
abstract: Male carriers with balanced reciprocal translocations can produce a variable proportion of unbalanced gametes resulting in reproductive failures. The presence of a structural rearrangement may induce an interchromosomal effect. This is characterized by abnormal bivalents not involved in the reorganization thereby yielding non-disjunction, which would present as aneuploid spermatozoa for these chromosomes. In the present case report segregation analysis of the sperm and investigation of interchromosomal effect were carried out using cytogenetic and fluorescence in situ hybridization (FISH) analysis on blood lymphocytes. The karyotype of the patient was 46,XY,t(3;6)(q21;q23). During sperm segregation analysis a total of 2,002 sperms were evaluated, of which 46.8% showed normal/balanced (alternate segregation mode) and 53.2% of sperm showed an abnormal signal pattern. A significant difference in the frequency of the estimated number of chromosome anomalies was observed in the translocation carrier when compared to the normozoospermic group (P<0.0001) and the oligozoospermic group (P<0.0001). Meiotic segregation analysis of sperm together with aneuploidy assessment for X, Y, and 17 chromosomes using FISH allows for the determination of a reproductive prognosis in male balanced translocation carriers and can be used for appropriate genetic counseling.
authors.affiliation: Clinical Genetic Center, Department of Pediatrics, Medical and Health Science Center, University of Debrecen, Debrecen, Hungary.
authors.forename: Attila
authors.initials: A
authors.lastname: Mokánszki
authors.forename: Anikó
authors.initials: A
authors.lastname: Ujfalusi
authors.forename: Erzsébet
authors.initials: E
authors.lastname: Balogh
authors.forename: Andrea
authors.initials: A
authors.lastname: Sümegi
authors.forename: Péter
authors.initials: P
authors.lastname: Antal-Szalmás
authors.forename: Zsuzsa Kassai
authors.initials: ZK
authors.lastname: Bazsáné
authors.forename: Zsuzsanna
authors.initials: Z
authors.lastname: Molnár
authors.forename: Attila
authors.initials: A
authors.lastname: Varga
authors.forename: Tamás
authors.initials: T
authors.lastname: Sápy
authors.forename: Attila
authors.initials: A
authors.lastname: Jakab
authors.forename: Éva
authors.initials: É
authors.lastname: Oláh
mesh_terms: D000328:Adult; D020090:Chromosome Segregation / Q000235:genetics; D002893:Chromosomes, Human, Pair 3; D002896:Chromosomes, Human, Pair 6; D041321:Chromosomes, Human, X / Q000235:genetics; D041322:Chromosomes, Human, Y / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D007248:Infertility, Male / Q000235:genetics*; D008297:Male; D008540:Meiosis / Q000235:genetics*; D013094:Spermatozoa / Q000166:cytology*; D014178:Translocation, Genetic / Q000235:genetics*; D055815:Young Adult