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Öğe Application of the multi-colour FISH to interphase nuclei and metaphase spreads for simultaneous examination of monosomy 7 and trisomies 8 and 11 in acute myelocytic leukaemia (AML)(BLACKWELL SCIENCE LTD, 1997) Acar, Hasan; Acar, AynurWe have used the multi-colour (three) fluorescence in situ hybridization (FISH) technique based on the ratio labelling for the detection of monosomy 7 and trisomies 8 and 11 in 13 cases of acute myeloid leukaemia (AML). Two out of the 13 AML cases showed monosomy 7 and two out of the remaining cases exhibited trisomy 8 in interphase nuclei. Three of these results were confirmed by metaphase-FISH study. Trisomy 11 was not found either by the interphase FISH study or in the metaphase FISH study. These results demonstrate the potential power of multi-colour FISH using ratio labelling to produce more fluorescein colour in interphase nuclei for the detection of aneuploidies in leukaemia.Öğe A case with ICF syndrome lost to rubella pneumonitis(TURKISH J PEDIATRICS, 2005) Reisli, İsmail; Yıldırım, Mahmut Selman; Köksal, Yavuz; Avunduk, Mustafa Cihat; Acar, AynurThe immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare autosomal recessive disorder characterized by variable immunodeficiency, instability of the pericentromeric heterochromatin, and facial dysmorphism. Here we report a new case of ICF syndrome who died of rubella pneumonitis. A six year-old-girl who was the first child of consanguineous parents was admitted to the hospital because of bronchopneumonia. Laboratory investigations revealed pan-hypogammaglobulinemia, lymphopenia, normal proportions of peripheral blood lymphocytes with an inverted CD4/CD8 ratio, and interstitial pneumonia with a positive serology of acute rubella infection. The ICF syndrome was diagnosed by centromeric instability in the standard cytogenetic analysis. An inclusion body was demonstrated in the lung biopsy after the death of the patient. Chromosomal investigation could be helpful along with other tests for diagnosis of variable immunodeficiency accompanied by facial dysmorphism.Öğe Coexistence of pericentric inversion of chromosome Y and chromosome 15p+ in a case detected with cytogenetic and FISH techniques(KARGER, 1997) Acar, H.; Çora, Tülin; Erkul, I.; Acar, Aynur[Abstract not Available]Öğe Cytogenetic Findings in Couples With Reproductive Wastage(1996) Acar, Aynur; Demirel, Sennur; Çora, Tülin; Durakbaşı, H. Gül; Acar, Hasan; Zamani, Ayşe Gül[Abstract not Available]Öğe Distal trisomy 10q24 due to maternal 10;22 translocation, third case in the same family(VERSITA, 2012) Tasdemir, Pelin; Zamani, Ayse Gul; Demirel, Sennur S.; Acar, AynurDistal trisomy 10q is a well delineated but a rare syndrome with characteristic phenotypic features. We present clinical and cytogenetic data on a 7 day-old girl with distal 10q trisomy (10q24 -> qter), due to maternal t(10.22) reciprocal translocation. Her karyotype showed an unbalanced translocation between chromosomes 10 and 22, resulting in trisomy of the distal part of the long arm of chromosome 10q24.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 Laboratuvarımızda Saptanan Dengeli ve Dengesiz Robertsonian Translokasyonların Dağılımı(2001) Demirel, Şennur; Zamani, Ayşegül; Durakbaşı, Gül; Acar, AynurAmaç: Bu çalışma laboratuvarımızda saptayabildiğimiz Robertsonian translokasyon kromozomlarının dağılımını ve üreme kayıpları ile anomalili çocuk doğumlarına olan etkisini belirleyebilmek amacıyla yapıldı. Yöntem: Periferik kan lenfosit kültürleri hazırlanarak yapılan preparatlar Seabright'in modifiye GTG-bantlama, gerektiğinde NOR ve C-bantlama yöntemleri uygulanarak değerlendirildi. Bulgular: 13, 14, 15, 21 ve 22 numaralı kromozomların işe karıştığı 22 olguda Robertsonian translokasyon saptandı. Bunların on birinde 14q;21q, birinde 15q;21q, üçünde 21q;21q Robertsonian translokasyonlarından kaynaklanan trizomi 21, bir olguda maternal 13q;14q Robertsonian translokasyonunun dengesiz ürünü olan trizomi 13 mevcuttu. Tekrarlayan düşükleri olması nedeniyle incelemeye alınan 6 olgunun da dengeli Robertsonian translokasyon taşıyıcısı olduğu belirlendi. Sonuç: Kromozomal yeniden düzenlenmelerin en yaygını olan Robertsonian translokasyonlarm saptanması, taşıyıcılarda tekrarlayan düşüklerin açıklanması ve anomalili çocuk doğumlarının kontrolü açısından çok önemlidir.Öğe Meningiomlardaki Kromozomal Anomaliler(2001) Zamani, Ayşe Gül; Durakbaşı, H. Gül; Acar, Aynur; Acar, Osman; Özkal, ErtuğÇalışmanın amacı, meningiomlarda rastlanan karyotipik anomalileri tanımlamak, tümörlerin histopatolojik özellikleri ve yerleşim yerleri ile birlikte değerlendirmektir. Sitogenetik analizler 28 olguluk çalışma grubundan kurulan hücre kültürlerinden elde edilen metafazların GTG-bandlama yöntemiyle gerçekleştirildi ve değerlendirmeler ISCN 1995'e uygun olarak yapıldı. Elde edilen verilere göre, kromozomal anomalisi olmayan olgu sayısı 10(%36), sadece monozomi 22'li olgu sayısı 8 (%28.6), monozomi 22'ye ek olarak 1., 4., 8., 10., 12., 15., 17., 19., ve 20. kromozomlarla, X ve Y kromozomlarına ait anomalilere sahip olgu sayısı 10 (%36) idi. Toplam kromozomal anomalili olgu sayısı 18(%64) olarak saptandı.Olguların ikisinde kompleks translokasyonlar, birinde klonal olarak değerlendirilemeyen çeşitli yapısal kromozomal anomaliler izlendi. Diğer olgularda çeşitli otozomal kromozomlara ve cinsiyet kromozomlarına ait kayıplar mevcuttu. Histopatolojik tiplemede meningotelyal olan olguların altısında, fibroblastik olan olguların üçünde, transisyonel olan olguların dördünde, psammamatöz, angioblastik ve anaplastik olan olguların ise tümünde karyotipik anomali mevcuttu. Kromozom anomalileri ve tümörün yerleşim yeri arasındaki ilişki gözden geçirildiğinde, karyotipik anomali saptanan 18 olgudan 12'sinde tümör'ün beyin konveksitesine yerleştiği görüldü. Sonuçlarımıza göre, meningiomlarda kromozom 22'nin sık kayba uğramasının yanında, çeşitli diğer klonal karyotipik anomaliler ortaya çıkmakta, biyolojik ve patolojik bulguların çeşitliliğine yol açmaktadır.Öğe A new approach to chromosomal abnormalities in sperm from patients with oligoasthenoteratozoospermia: detection of double aneuploidy in addition to single aneuploidy and diploidy by five-color fluorescence in situ hybridization using one probe set(ELSEVIER SCIENCE INC, 2008) Durakbasi-Dursun, Hatice Gul; Zamani, Ayse Gul; Kutlu, Ruhusen; Gorkemli, Huseyin; Bahce, Muhterem; Acar, AynurObjective: To determine the frequencies of disomy, nullisomy, total aneuploidy, and diploidy in the sperms of infertile men. Design: A controlled prospective study. Setting: Assisted reproductive technology (ART)/IVF Unit and Department of Medical Biology and Genetics, Meram Medical Faculty, Konya, Turkey. Patient(s): Infertile men with oligoasthenoteratozoospermia (OAT) and normal fertile donors. Intervention(s): After slide preparation from semen samples, sperm nuclei were analyzed for chromosomes 13, 18, 21, X, and Y by five-color fluorescence in situ hybridization. Main Outcome Measure(3): The sperm aneuploidy (disomy and nullisomy) and diploidy rates were determined according to the number of signals detected for each probe in infertile and fertile men. Results: Patients with OAT had a significantly higher incidence of disomy (except chromosome 18 and XX disomy), nullisomy (except chromosome 18), and diploidy than normal fertile controls. In addition to double disomy, double nullisomy and disomy+nullisomy were observed in patients with OAT, but none of these were seen in controls. Conclusion(s): In this study patients with OAT had an increased rate of sperm aneuploidy and diploidy. This finding suggest that patients with OAT may be at an increased risk of producing aneuploid and triploid offsprings. For this reason, it may be very, important to perform the sperm fluorescence in situ hybridization in patients with OAT. Thus, a more informative genetic counseling might be given to couples with male factor infertility who are at an increased risk of having Aneuploid offsprings and triploid conceptions before intracytoplasmic sperm injection (ICSI). (Fertil Steril (R) 2008;89:1709-17. (c) 2008 by American Society for Reproductive Medicine.).Öğe A patient with de novo ring chromosome 5(SPRINGER, 2011) Acar, Aynur; Zamani, Ayse Gul; Yildirim, M. Selman; Durakbasi, Hatice Gul; Balasar, Mine[Abstract not Available]Öğe Simultaneous occurrence of chronic myelogenous leukemia and non-Hodgkin lymphoma at diagnosis(ELSEVIER SCIENCE INC, 1999) Acar, Hasan; Ecirli, Şamil; Gündoğan, Fahreddin; Bulay, Orhan; Acar, AynurWe describe a case with the simultaneous occurrence of chronic myelogenous leukemia (CML) and non-Hodgkin lymphoma (NHL). Peripheral blood (PB) and bone marrow (BM) smears showed typical CML features. Lymph node biopsy exhibited a large-cell NHL. The Philadelphia chromosome or ifs molecular counterpart, the BCR-ABL gene fusion, by detecting with dual color-(DC) fluorescence in situ hybridization (FISH) was detected reliably both in metaphase spreads from BM and in interphase nuclei from BM and follow-up PB cells, but was not detected in the lymph node cells. Clinical features and laboratory findings show this case having a coexistence of CML and NHL. (C) Elsevier Science Inc., 1998.Öğe Yaygın değişken immünyetmezliklerde bilinen genetik defektler(2014) Kara, Reyhan; Göktürk, Bahar; Acar, AynurYaygın değişken immünyetmezlik (YDİY), immünyetmezlik hastalıklarının nispeten sık görülen bir şekli olup, immünglobulin üretiminde eksiklik ve primer antikor yetmezliği ile giden heterojen bir hastalık grubudur. Son yıllarda, tanımlanan çeşitli monogenik defektlerin YDİY'in klinik ve laboratuvar bulgularındaki değişkenliği belirlediği ve immünopatogenezinde rol oynadığı anlaşılmıştır. Bu derlemede, YDİY ile ilişkili olan ICOS (inducible co-stimulator), TACI (transmembrane activator and calcium-modulator and cyclophilin ligand interactor), CD19, MSH5 (MutS Homologue 5 Mutations), BAFF-R (B cell activating factor receptor), CD20, CD81, CD21, LRBA (lipopolysaccharide-responsive beige-like anchor) molekül defektleri ve bunların genetik temellerinin gözden geçirilmesi amaçlanmıştır.
