Sperm and embryo analysis of similar t(7;10) translocations
transmitted in two families

J 2011

Sperm and embryo analysis of similar t(7;10) translocations transmitted in two families

VOZDOVÁ, Miluše; Eva ORÁČOVÁ; Petra MUSILOVÁ; Kateřina KAŠÍKOVÁ; Petra PŘINOSILOVÁ et al.

Základní údaje

Originální název

Sperm and embryo analysis of similar t(7;10) translocations transmitted in two families

Autoři

VOZDOVÁ, Miluše; Eva ORÁČOVÁ; Petra MUSILOVÁ; Kateřina KAŠÍKOVÁ; Petra PŘINOSILOVÁ; Renata GAILLYOVÁ a Jiří RUBEŠ

Vydání

Fertility and Sterility, New York, Elsevier Science INC, 2011, 0015-0282

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30214 Obstetrics and gynaecology

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 3.775

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14110/11:00081789

Organizační jednotka

Lékařská fakulta

DOI

https://doi.org/10.1016/j.fertnstert.2011.04.042

UT WoS

000292283000019

Klíčová slova anglicky

Embryo; FISH; interchromosomal effect; meiotic segregation; reciprocal translocation; sperm

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 4. 11. 2015 10:04, Ing. Mgr. Věra Pospíšilíková

Anotace

V originále

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.

Citovat

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. Fertility and Sterility. New York: Elsevier Science INC, 2011, roč. 96, č. 1, s. "E66"-"E70", 5 s. ISSN 0015-0282. Dostupné z: https://doi.org/10.1016/j.fertnstert.2011.04.042.

@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 = {https://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://doi.org/10.1016/j.fertnstert.2011.04.042.

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