PMID- 21561609 OWN - NLM STAT- MEDLINE DCOM- 20110829 LR - 20110704 IS - 1556-5653 (Electronic) IS - 0015-0282 (Linking) VI - 96 IP - 1 DP - 2011 Jul TI - Sperm and embryo analysis of similar t(7;10) translocations transmitted in two families. PG - e66-70 LID - 10.1016/j.fertnstert.2011.04.042 [doi] AB - 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. CI - Copyright (c) 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved. FAU - Vozdova, Miluse AU - Vozdova M AD - Department of Genetics and Reproduction, Veterinary Research Institute, Brno, Czech Republic. vozdova@vri.cz FAU - Oracova, Eva AU - Oracova E FAU - Musilova, Petra AU - Musilova P FAU - Kasikova, Katerina AU - Kasikova K FAU - Prinosilova, Petra AU - Prinosilova P FAU - Gaillyova, Renata AU - Gaillyova R FAU - Rubes, Jiri AU - Rubes J LA - eng PT - Case Reports PT - Journal Article PT - Research Support, Non-U.S. Gov't DEP - 20110511 PL - United States TA - Fertil Steril JT - Fertility and sterility JID - 0372772 SB - IM MH - Adult MH - Chromosomes, Human, Pair 10/*genetics MH - Chromosomes, Human, Pair 7/*genetics MH - Female MH - Humans MH - In Situ Hybridization, Fluorescence/methods MH - Male MH - Pedigree MH - Preimplantation Diagnosis/*methods MH - Spermatozoa/*physiology MH - Translocation, Genetic/*genetics EDAT- 2011/05/13 06:00 MHDA- 2011/08/30 06:00 CRDT- 2011/05/13 06:00 PHST- 2011/01/27 00:00 [received] PHST- 2011/04/11 00:00 [revised] PHST- 2011/04/13 00:00 [accepted] PHST- 2011/05/13 06:00 [entrez] PHST- 2011/05/13 06:00 [pubmed] PHST- 2011/08/30 06:00 [medline] AID - S0015-0282(11)00655-8 [pii] AID - 10.1016/j.fertnstert.2011.04.042 [doi] PST - ppublish SO - Fertil Steril. 2011 Jul;96(1):e66-70. doi: 10.1016/j.fertnstert.2011.04.042. Epub 2011 May 11.