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Öğe Evaluation of Segregation Patterns of 21;21 Robertsonian Translocation Along With Sex Chromosomes and Interchromosomal Effects in Sperm Nuclei of Carrier by Fish Technique(Wiley-Liss, 2002) Acar, Hasan; Yıldırım, Mahmut Selman; Çora, Tülin; Ceylaner, SerdarMeiotic segregation patterns of carriers of Robertsonian translocations (RT) are important for assessing the risk of unbalanced forms. We investigated the ratio of sperm with t(21;21) to sperm with nullisomy for chromosome 21; the segregation of the t(21;21) along with sex chromosomes, and also interchromosomal effects on chromosome 10 by using three color fluorescence in situ hybridization (FISH) with telomere specific (Tel 21q) and centromerespecific alpha satellite probes for chromosomes X, Y, and 10. The percentage of cosegregation of t(21;21) with sex chromosomes (49.50%) and without sex chromosomes (46.98%) was not significant. There are no significant differences between the percentages of cosegregation of t(21;21) with chromosome X (23.36%) and with chromosome Y (26.16%). No evidence of an interchromosomal effect on chromosome 10 was detected, the percentage of chromosome 10 aneuploidy being similar to that in controls. In addition, the frequency of diploid sperm nuclei was not significantly higher in the carrier (0.32%) than in the controls (0.44%) (P > 0.05). The sex ratio was similar within the carrier and the controls and between the carrier and the control. Three color-FISH analysis, using different probe combinations, seems a rapid and accurate too[ for direct analysis of meiotic segregation product.Öğe Extremely Skewed X-Chromosome Inactivation Patterns in Women With Recurrent Spontaneous Abortion(Blackwell Publishing, 2006) Bağışlar, Sevgi; Üstüner, Işık; Cengiz, Bora; Söylemez, Feride; Akyerli, Cemaliye Boylu; Ceylaner, Serdar; Ceylaner, Gülay; Acar, Aynur; Özçelik, TayfunBackground: The role of extremely skewed X-chromosome inactivation (XCI) has been questioned in the pathogenesis of recurrent spontaneous abortion (RSA) but the results obtained were conflicting. Aims: We therefore investigated the XCI patterns in peripheral blood DNA obtained from 80 patients who had RSA and 160 age-matched controls. Methods: Pregnancy history, age, karyotype, and disease information was collected from all subjects. The methylation status of a highly polymorphic cytosine-adenine-guanine repeat in the androgen-receptor (AR) gene was determined by use of methylation-sensitive restriction enzyme HpaII and polymerase chain reaction. Results: Skewed XCI (> 85% skewing) was observed in 13 of the 62 patients informative for the AR polymorphism (20.9%), and eight of the 124 informative controls (6.4%) (P = 0.0069; chi(2) test). More importantly, extremely skewed XCI, defined as > 90% inactivation of one allele, was present in 11 (17.7%) patients, and in only two controls (P = 0.0002; chi(2) test). Conclusions: These results support the interpretation that disturbances in XCI mosaicism may be involved in the pathogenesis of RSA.Öğe An uncommon complementary isochromosome of 46,XY, i(9)(p10), i(9)(q10) in an infertile oligoasthenoteratozoospermic man(ELSEVIER SCIENCE INC, 2011) Guven, Emine Seda Guvendag; Dilbaz, Serdar; Ceylaner, Serdar; Acar, Hasan; Cinar, Ozgur; Ozdegirmenci, Ozlem; Karcaaltincaba, DenizObjective: To report a rare case of male infertility associated with oligoasthenoteratozoospermia and complementary isochromosome 46 XY, i(9)(p10), i(9)(q10). Design: Case report. Setting: Reference hospital. Patient(s): Infertile oligoastenozoospermic man with complementary isochromosome 46, XY, i(9)(p10), i(9)(q10). Intervention(s): Peripheral blood lymphocytes obtained for karyotyping, and florescence in situ hybridization (FISH) analysis for gonadal mosaicism in ejaculated spermatozoa. Main Outcome Measure(s): Physical examination, semen analysis, GBG banding, and FISH procedure. Result(s): The semen analysis revealed oligoasthenoteratozoospermia. The lymphocytic karyotype detected a complementary isochromosome 46, XY, i(9)(p10), i(9)(q10), and the FISH procedure showed abnormal sperm. Conclusion(s): This the first report of oligoasthenoteratozoospermia associated with complementary isochromosome 46, XY, i(9)(p10), i(9)(q10). (Fertil Steril (R) 2011;95:290.e5-e8. (C) 2011 by American Society for Reproductive Medicine.)