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

Oleh:

Vozdova, Miluse ; Oracova, Eva ; Musilova, Petra ; Kasikova, Katerina

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Fertility and Sterility (keterangan: ada di ClinicalKey) vol. 96 no. 01 (Jul. 2011), page e66-e70.
Topik: Embryo; FISH; interchromosomal effect; meiotic segregation; reciprocal translocation; sperm

Ketersediaan

Perpustakaan FK Nomor Panggil: F02.K.2011.04 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

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.

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