Preimplantation genetic diagnosis for a carrier of a Y;autosome translocation resulting in a healthy male offspring  

Oleh:

Ogilvie, Caroline Mackie ; Watson, Sally ; Braude, Peter

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Fertility and Sterility (keterangan: ada di ClinicalKey) vol. 94 no. 04 (Sep. 2010), page 1529.
Topik: Y; autosome translocation; PGD; infertility

Ketersediaan

Perpustakaan FK Nomor Panggil: F02.K.2010.05 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

Objective To demonstrate the feasibility of establishing a successful pregnancy for a carrier of a balanced Y;autosome translocation. Design Four locus-specific fluorescence in situ hybridization (FISH) probes, informative for the translocation, were identified and tested on peripheral lymphocyte metaphase chromosomes and interphase preparations from the translocation carrier and his partner. Setting National health service genetics center, cytogenetics laboratory, and assisted conception unit. Patient(s) An infertile man, presenting with a balanced Y;13 translocation, and his reproductive partner. Intervention(s) After ovarian stimulation, 15 eggs were collected, nine were injected, and three were suitable for blastomere biopsy on day 3; a single blastomere was taken from each embryo and tested with four locus-specific FISH probes. Main Outcome Measure(s) Birth of a healthy child. Result(s) One embryo showed a triploid signal pattern and one had fragmented nuclei; neither was suitable for transfer. One embryo showed a balanced male signal pattern and was transfered. A singleton pregnancy was established, resulting in the birth of a healthy male child. Conclusion(s) This first report of successful preimplantation genetic diagnosis treatment for infertile males with y:autosome translocations demonstrates that this treatment option can result in successful pregnancies and healthy offspring.

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