Document Detail


Balanced chromosomal translocations in men: relationships among semen parameters, chromatin integrity, sperm meiotic segregation and aneuploidy.
MedLine Citation:
PMID:  23318982     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
PURPOSE: To analyse relationships between semen parameters, sperm chromatin integrity and frequencies of chromosomally unbalanced, disomic and diploid sperm in 13 Robertsonian and 37 reciprocal translocation carriers and to compare the results with data from 10 control donors.
METHODS: Conventional semen analysis, Sperm Chromatin Structure Assay and FISH with probes for chromosomes involved in the individual translocations and for chromosomes X, Y, 7, 8, 13, 18 and 21.
RESULTS: Normal semen parameters were found in 30.8 % of Robertsonian and 59.5 % of reciprocal translocation carriers. The rates of unbalanced sperm were 12.0 % in Robertsonian and 55.1 % in reciprocal translocation carriers with no difference between normospermic patients and those showing altered semen parameters. Significantly increased frequencies of spermatozoa showing defects in chromatin integrity and condensation, aneuploidy for chromosomes not involved in a translocation and diploidy were detected in translocation carriers with abnormal semen parameters. Normospermic reciprocal translocation carriers showed an increase in chromosome 13 disomy compared to the control group. There was no relationship between gametic and somatic aneuploidy in 12 translocation carriers studied by FISH on sperm and lymphocytes. The frequency of motile sperm was negatively correlated with the frequency of sperm showing disomy, diploidy and defective chromatin condensation.
CONCLUSIONS: Abnormal semen parameters can serve as indicators of an additional risk of forming spermatozoa with defective chromatin and aneuploidy in translocation carriers.
Authors:
Miluse Vozdova; Eva Oracova; Katerina Kasikova; Petra Prinosilova; Roman Rybar; Vera Horinova; Renata Gaillyova; Jiri Rubes
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2013-01-15
Journal Detail:
Title:  Journal of assisted reproduction and genetics     Volume:  30     ISSN:  1573-7330     ISO Abbreviation:  J. Assist. Reprod. Genet.     Publication Date:  2013 Mar 
Date Detail:
Created Date:  2013-03-26     Completed Date:  2013-09-23     Revised Date:  2014-03-06    
Medline Journal Info:
Nlm Unique ID:  9206495     Medline TA:  J Assist Reprod Genet     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  391-405     Citation Subset:  IM    
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MeSH Terms
Descriptor/Qualifier:
Adult
Aneuploidy
Chromatin / genetics
Chromosome Segregation
Chromosomes, Human, Pair 13
Chromosomes, Human, Pair 18
Chromosomes, Human, X
Chromosomes, Human, Y
Heterozygote
Humans
In Situ Hybridization, Fluorescence
Infertility, Male / genetics
Karyotyping
Male
Middle Aged
Semen / cytology*
Semen Analysis
Spermatozoa / cytology*
Translocation, Genetic / genetics*
Chemical
Reg. No./Substance:
0/Chromatin
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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