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Journal of Assisted Reproduction and Genetics

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01-09-2013 | Genetics

Chromosomal segregation in sperm of Robertsonian translocation carriers

Authors: Larysa Y. Pylyp, Valery D. Zukin, Nadiya M. Bilko

Published in: Journal of Assisted Reproduction and Genetics | Issue 9/2013

Abstract

Purpose

To study meiotic segregation patterns of Robertsonian translocations in sperm of male carriers and to assess the frequencies of unbalanced sperm formation.

Methods

FISH with combination of probes to detect all the variants of meiotic segregation was performed on decondensed sperm nuclei of 5 carriers of der(13;14), 3 carriers of der(14;21) and one carrier of a rare der(13;21) translocation.

Results

The frequency of sperm with alternate segregation and normal/balanced chromosomal complement ranged from 68 % to 94.4 % (mean 79.2 ± 8.4). Adjacent segregation was detected in 17.9 ± 7.3 % of sperm (from 5.6 % to 29 %). No significant differences in frequencies of gametes with nullisomies and disomies of chromosomes involved in translocations were observed. The mean frequency of 3:0 segregation products was 2.5 ± 1.4 %.

Conclusions

All analyzed patients showed homogenous segregation pattern with clear predominance of alternate segregation resulting in normal/balanced sperm production. Still, from 5.8–32 % (mean 20.4 ± 8.3 %) of sperm was unbalanced, which is the evidence of the increased risk of unbalanced offspring in carriers of Robertsonian translocations. Our results highlight the importance of genetic counseling of Robertsonian translocation carriers prior to ICSI or IVF.

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Title: Chromosomal segregation in sperm of Robertsonian translocation carriers
Authors: Larysa Y. Pylyp
Valery D. Zukin
Nadiya M. Bilko
Publication date: 01-09-2013
Publisher: Springer US
Published in: Journal of Assisted Reproduction and Genetics / Issue 9/2013
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI: https://doi.org/10.1007/s10815-013-0067-1

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Springer Medicine

Chromosomal segregation in sperm of Robertsonian translocation carriers

Abstract

Purpose

Methods

Results

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Purpose

Methods

Results

Conclusions

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