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Journal of Assisted Reproduction and Genetics
Article . 2013 . Peer-reviewed
License: Springer TDM
Data sources: Crossref
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Chromosomal segregation in sperm of Robertsonian translocation carriers

Authors: Pylyp, Larysa; Zukin, Valery; Bilko, Nadiia;

Chromosomal segregation in sperm of Robertsonian translocation carriers

Abstract

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

Keywords

Adult, Chromosomes, Human, Pair 14, Male, 570, Heterozygote, Chromosomes, Human, Pair 13, Chromosomes, Human, Pair 21, Robertsonian translocation, 610, Genetic Counseling, Spermatozoa, Translocation, Genetic, Unbalanced sperm, Meiosis, FISH, Chromosome Segregation, Humans, Meiotic segregation, Sperm Injections, Intracytoplasmic, In Situ Hybridization, Fluorescence

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    22
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    Top 10%
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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
22
Top 10%
Average
Average
bronze