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

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 reorgani...

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Published in:Systems biology in reproductive medicine 2012-06, Vol.58 (3), p.160-164, Article 160
Main Authors: Mokánszki, Attila, Ujfalusi, Anikó, Balogh, Erzsébet, Sümegi, Andrea, Antal-Szalmás, Péter, Bazsáné, Zsuzsa Kassai, Molnár, Zsuzsanna, Varga, Attila, Sápy, Tamás, Jakab, Attila, Oláh, Éva
Format: Article
Language:English
Subjects:
Adult
balanced reciprocal translocation
Chromosome Segregation - genetics
Chromosomes, Human, Pair 3
Chromosomes, Human, Pair 6
Chromosomes, Human, X - genetics
Chromosomes, Human, Y - genetics
Humans
In Situ Hybridization, Fluorescence - methods
Infertility, Male - genetics
interchromosomal effect
Male
Meiosis - genetics
meiotic segregation analysis
sperm FISH
Spermatozoa - cytology
Translocation, Genetic - genetics
Young Adult
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Summary: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 
ISSN:1939-6368
1939-6376
1939-6376
DOI:10.3109/19396368.2012.670868