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@article{970183,
author = {Vozdová, Miluše and Oráčová, Eva and Musilová, Petra and Kašíková, Kateřina and Přinosilová, Petra and Gaillyová, Renata and Rubeš, Jiří},
article_location = {New York},
article_number = {1},
doi = {http://dx.doi.org/10.1016/j.fertnstert.2011.04.042},
keywords = {Embryo; FISH; interchromosomal effect; meiotic segregation; reciprocal translocation; sperm},
language = {eng},
issn = {0015-0282},
journal = {Fertility and Sterility},
title = {Sperm and embryo analysis of similar t(7;10) translocations transmitted in two families},
volume = {96},
year = {2011}
}
TY - JOUR
ID - 970183
AU - Vozdová, Miluše - Oráčová, Eva - Musilová, Petra - Kašíková, Kateřina - Přinosilová, Petra - Gaillyová, Renata - Rubeš, Jiří
PY - 2011
TI - Sperm and embryo analysis of similar t(7;10) translocations transmitted in two families
JF - Fertility and Sterility
VL - 96
IS - 1
SP - "E66"-"E70"
EP - "E66"-"E70"
PB - Elsevier Science INC
SN - 00150282
KW - Embryo
KW - FISH
KW - interchromosomal effect
KW - meiotic segregation
KW - reciprocal translocation
KW - sperm
N2 - Objective: To compare the sperm meiotic segregation profiles in two men from families with similar t(7;10) translocations and determine the frequency of unbalanced sperm and preimplantation embryos in one couple. Design: Analysis of sperm nuclei and blastomeres by fluorescence in situ hybridization (FISH). Setting: Research institute. Patient(s): Carriers of balanced translocations t(7;10)(q34;q24) and t(7; 10)(q36;q24.3). Intervention(s): Multicolor FISH using probes for chromosomes 7, 10, 8, 18, 21, X, and Y on sperm and preimplantation genetic diagnosis (PGD) of blastomeres. Main Outcome Measure(s): Frequencies of meiotic segregation products in sperm and blastomeres and sperm aneuploidy of chromosomes 8, 18, 21, X, and Y. Result(s): Similar meiotic segregation patterns, with preferential alternate segregation (50.6% in patient P1, 48.1% in P2) followed by adjacent 1, adjacent 2 and 3:1 segregations, were observed in the sperm of the two carriers. An interchromosomal effect on the sex chromosomes was found when compared with disomy frequencies reported in control donors. The results of preimplantation genetic diagnosis in the first couple are roughly consistent with the sperm analysis results. Conclusion(s): Carriers of similar translocations show similar segregation profiles. The in vitro fertilization method accompanied by preimplantation genetic diagnosis increases the chance of translocation carriers fathering a healthy child.
ER -
VOZDOVÁ, Miluše, Eva ORÁČOVÁ, Petra MUSILOVÁ, Kateřina KAŠÍKOVÁ, Petra PŘINOSILOVÁ, Renata GAILLYOVÁ a Jiří RUBEŠ. Sperm and embryo analysis of similar t(7;10) translocations transmitted in two families. \textit{Fertility and Sterility}. New York: Elsevier Science INC, 2011, roč.~96, č.~1, s.~''E66''-''E70'', 5 s. ISSN~0015-0282. Dostupné z: https://dx.doi.org/10.1016/j.fertnstert.2011.04.042.
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