THE LARGEST PARACENTRIC INVERSION, THE HIGHEST RATE OF RECOMBINANT SPERMATOZOA. CASE REPORT: 46,XY, inv(2)(q21.2q37.3) AND LITERATURE REVIEW
Yapan CC, Beyazyurek C, Ekmekci CG, Kahraman S
*Corresponding Author: Cigdem Cinar Yapan, MSc., Reproductive Genetics Laboratory, Istanbul Memorial Hospital, Piyalepasa Street, 34385 Sisli, Istanbul, Turkey. Tel.: +90-212-314-6666. Fax: +90-212-314-6657. E-mail: cigdemcinar78@gmail.com
page: 55

MATERIALS AND METHODS

Patients. A 43-year-old man and his 42-year-old wife were referred to the Istanbul Memorial Hospital In Vitro Fertilization (IVF) and Reproductive Genetics Center, Istanbul, Turkey, with primary infertility and a history of repeated implantation failures in their nine IVF attempts. Cytogenetic analysis reports indicated 46,XY,inv(2) (q21.2q37.3) (Figure 2) and 46,XX, for the man and woman, respectively. A sperm-FISH evaluation was proposed to determine the meiotic segregation profiles of the PAI. Sperm Fluorescent In Situ Hybridization Analysis. Sperm samples were collected in a sterile container after 3 days of sexual abstinence. All procedures including fixation, pretreatment, probe application, hybridization, and washing steps were carried out as described previously [17]. Hybridization was performed with two specific telomeric and centromeric probe mixtures. The first mixture included Telomeric (Tel) 2p (Spectrum Green), Tel 2q (Spectrum Orange) and Centromeric (Cen) 18 (Spectrum Aqua) as a control probe. The second mixture included Tel 2p (Spectrum Green), Cen 2 (Spectrum Orange) and Cen 18 (Spectrum Aqua) (Abbott Molecular, Abbott Park, North Chicago, IL, USA). In order to evaluate aneuploidies of other chromosomes or any possible ICE, probes specific for chromosomes 13, 15, 17, 18, 21, X and Y were also included in the study. The 13, 18, 21, X and Y probes were in our routine aneuploidy panel. Probes specific for chromosomes 15 and 17 were selected randomly in order to increase the number of chromosomes. Analysis criteria that have been described elsewhere [18] was followed. In Vitro Fertilization Study. The couple underwent IVF treatment at the IVF and Reproductive Genetics Center at the Memorial Hospital, Istanbul, Turkey. In vitro fertilization, embryological culture conditions have been described previously [19]. Written informed consent was obtained from the couple before they underwent IVF.



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