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@article{1180969,
author = {Vozdova, Miluse and Oracova, Eva and Kašíková, Kateřina and Prinosilova, Petra and Rybar, Roman and Horinová, Vera and Gaillyová, Renata and Rubes, Jiri},
article_number = {3},
doi = {http://dx.doi.org/10.1007/s10815-012-9921-9},
keywords = {Spermatozoa; Chromosomal translocation; Chromatin integrity; Meiotic segregation; Aneuploidy},
language = {eng},
issn = {1058-0468},
journal = {Journal of Assisted Reproduction and Genetics},
title = {Balanced chromosomal translocations in men: relationships among semen parameters, chromatin integrity, sperm meiotic segregation and aneuploidy},
volume = {30},
year = {2013}
}
TY - JOUR
ID - 1180969
AU - Vozdova, Miluse - Oracova, Eva - Kašíková, Kateřina - Prinosilova, Petra - Rybar, Roman - Horinová, Vera - Gaillyová, Renata - Rubes, Jiri
PY - 2013
TI - Balanced chromosomal translocations in men: relationships among semen parameters, chromatin integrity, sperm meiotic segregation and aneuploidy
JF - Journal of Assisted Reproduction and Genetics
VL - 30
IS - 3
SP - 391-405
EP - 391-405
SN - 10580468
KW - Spermatozoa
KW - Chromosomal translocation
KW - Chromatin integrity
KW - Meiotic segregation
KW - Aneuploidy
N2 - 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. 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. 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. Abnormal semen parameters can serve as indicators of an additional risk of forming spermatozoa with defective chromatin and aneuploidy in translocation carriers.
ER -
VOZDOVA, Miluse, Eva ORACOVA, Kateřina KAŠÍKOVÁ, Petra PRINOSILOVA, Roman RYBAR, Vera HORINOVÁ, Renata GAILLYOVÁ and Jiri RUBES. Balanced chromosomal translocations in men: relationships among semen parameters, chromatin integrity, sperm meiotic segregation and aneuploidy. \textit{Journal of Assisted Reproduction and Genetics}. 2013, vol.~30, No~3, p.~391-405. ISSN~1058-0468. Available from: https://dx.doi.org/10.1007/s10815-012-9921-9.
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