Meiotic segregation study of a novel t(3;6)(q21;q23) in an infertile man using fluorescence in situ hybridization (FISH)

Attila Mokánszki, Anikó Ujfalusi, Erzsébet Balogh, Andrea Sümegi, Péter Antal-Szalmás, Zsuzsa Kassai Bazsáné, Zsuzsanna Molnár, Attila Varga, Tamás Sápy, Attila Jakab, Éva Oláh

Research output: Contribution to journalArticle

8 Citations (Scopus)

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 normalbalanced (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.

Original languageEnglish
Pages (from-to)160-164
Number of pages5
JournalSystems Biology in Reproductive Medicine
Volume58
Issue number3
DOIs
Publication statusPublished - Jun 2012

Keywords

  • Balanced reciprocal translocation
  • Interchromosomal effect
  • Meiotic segregation analysis
  • Sperm FISH

ASJC Scopus subject areas

  • Reproductive Medicine
  • Urology

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