Objective: The Philadelphia (Ph) chromosome, consisting of the t(9;22)(q34;q11) translocation, is observed in ~90% of patients with chronic myeloid leukemia (CML). Variant Ph translocations are observed in 5%-10% of CML patients. In variant translocations 3 and possibly more chromosomes are involved. Herein we report 6 CML patients with variant Ph translocations. Materials and Methods: Bone marrow samples were examined using conventional cytogenetic meth ods. Fluorescence in situ hybridization (FISH) with whole-chromosome paints and BCR-ABL 1D probes were used to confirm and/or complement the findings, and identify rearrangements beyond the resolution of conventional cytogenetic methods. Results: Variant Ph translocations in the 6 patients were as follows: t(7;22)(p22;q11), t(9;22;15) (q34;q11;q22), t(15;22)(p11;q11), t(1;9;22;3)(q24;q34;q11;q21), t(12;22)(p13;q11), and t(4;8;9;22) (q11;q13;q34;q11). Conclusion: Among the patients, 3 had simple and 3 had complex variant Ph translocations. Two of the presented cases had variant Ph chromosomes not previously described, 1 of which had a new complex Ph translocation involving chromosomes 1, 3, 9, 22, and t(1;9;22;3)(q24;q34;q11;q21) apart from a clone with a classical Ph, and the other case had variant Ph translocation with chromosomes 4, 8, 9, and 22, and t(4;8;9;22)(q11;q13;q34;q11) full complex translocation. Number of studies reported that some patients with variant Ph translocation were poor responders to imatinib. All of our patients with variant Ph translocations had suboptimal responses to imatinib, denoting a poor prognosis also. Variant Ph translocations may be important as they are associated with prognosis and therapy for CML patients. (Turk J Hematol 2011; 28: 186-92)
A AB BS S T TR RA AC CT T O Ob bj je ec ct ti iv ve e: : Recurrent pregnancy loss is an important problem affecting couples trying to conceive. Genetic factors, particularly chromosomal abnormalities appear to be highly associated with reproductive loss. The frequency of presence of at least one partner, who is a carrier of a structural chromosome rearrangement, varies from 3% to 11% among couples with a history of recurrent pregnancy loss. The aim of this study was to introduce the cytogenetic data of couples that referred with recurrent pregnancy loss to our center. M Ma at te er ri ia al l a an nd d M Me et th ho od ds s: : Chromosome analyses were performed in 449 couples with more than one pregnancy loss using GTL banding. R Re es su ul lt ts s: : Chromosome abnormalities were detected in one partner in 19 of 449 couples. All chromosome abnormalities were structural, and 18 of them were balanced. Autosomal reciprocal translocations were the most frequent type (2.9%) of abnormalities. The unique Robertsonian translocation found in our study was t(13;14), which was observed in two patients. Chromosomal heteromorphisms were determined in 19.59% of patients. C Co on nc cl lu us si io on n: : The frequency of chromosomal abnormalities were found as 4.23% in our series. Cytogenetic investigation of couples with recurrent pregnancy loss is necessary as chromosomal abnormalities constitute a very important part of factors that cause pregnancy loss.K Ke ey y W Wo or rd ds s: : Cytogenetics; abortion, habitual; chromosomes Ö ÖZ ZE ET T A Am ma aç ç: : Tekrarlayan gebelik kayıpları, çocuk sahibi olmayı amaçlayan çiftleri etkileyen önemli bir sorundur. Genetik etkenler, özellikle de kromozom anomalilerinin üreme kayıplarıyla yakın ilişkisinin olduğu bilinmektedir. Tekrarlayan gebelik kaybı öyküsü olan çiftlerde, eşlerin en az birinin kromozom yapı anomalisi taşıyıcısı olma sıklığının %3-11 arasında değiştiği bildirilmektedir. Bu çalışmada, merkezimize tekrarlayan gebelik kayıpları nedeniyle başvuran çiftlerden elde edilen sitogenetik verilerin değerlendirilmesi amaçlanmıştır. G Ge er re eç ç v ve e Y Yö ön nt te em ml le er r: : Birden fazla gebelik kaybı olan 449 çiftte G bantlama kullanılarak kromozom analizi gerçekleştirildi. B Bu ul lg gu ul la ar r: : 449 çiftin 19'unda eşlerden birinde kromozom anomalisi saptandı. Tüm kromozom anomalileri yapı anomalisi, 18'i ise dengeli olarak bulundu. En sık gözlenen kromozom anomalisi türü otozomal resiprokal translokasyonlar (%2.9) olarak bulundu. İki olguda saptanan t(13;14) bu çalışmada gözle-nen tek Robertson tipi translokasyon oldu. %19.59 oranında kromozomal heteromorfizm gözlendi. S So on nu uç ç: : Bu çalışmada, tekrarlayan gebelik kaybı öyküsü olan çiftlerde kromozom anomalilerinin sıklığı %4.23 olarak bulunmuştur. Kromozom anomalileri tekrarlayan gebelik kayıp sebeplerinin önemli bir bölümünü oluşturduğundan, tekrarlayan gebelik kayıpları olan çiftlerde sitogenetik inceleme yapılması gereklidir.
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