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2004-2006 Dönemi Pediatrik Hastaların Periferik Kan Sitogenetik Sonuçlarının Değerlendirilmesi

An Evaluation Cytogenetic Result of Pediatric Patients’ Peripheric Blood within the Years 2004-2006

Journal Name:

  • İnönü Üniversitesi Tıp Fakültesi Dergisi

Publication Year:

  • 2006

Key Words:

Keywords (Original Language):

Author NameUniversity of AuthorFaculty of Author
Abstract (2. Language): 
Objectives: In this study, we investigated pediatric patients admitted to Genetic Diagnostic Laboratory of Medical Faculty, İnönü University, in terms of major chromosomal aberrations, with varied clinical prediagnoses of phenotypic dysmorphogenesis retrospectively. Methods: For this purpose, chromosomes of 204 patients were obtained by peripheral lymphocyte tissue culture technique and karyotypes were investigated using the G-band method. Besides the clinical presentation features, associated anomalies and maternal characteristics were noted. Results: Chromosomal anomalies were detected in a total of 57 (27,9%) children. These were as follows, trisomy 21 (21,57%), Turner syndrome (2.94%), trisomy 13 (1.96%), trisomy 18 (0.49%), mosaic-trisomy 8 (0,49%) and inv (9)(p11; q13) (0.49%). Mongoloid slant, epicanthal folds, hypertelorism, simian crease, flat nasal bridge, and microcephaly were observed in >60% of Down syndrome cases. Congenital heart disease was documented in 13 (32.5%) cases. Increasing maternal age was found 37 (84.1%) cases with trisomy 21. Conclusions: The findngs obtained from the results in the study have indicated that, among etiologic factors leading to congenital malformations, chromosomal abnormalities play a significant role. To evaluate congenital anomalies with chromosomal aberrations, the teamwork of geneticists and pediatricians increases the probability of determining the etiological diagnosis properly. This is essential to decrease the parents’ reproductive risk, thus contributing to primary prevention of congenital anomalies.
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Abstract (Original Language): 
Amaç: Bu çalışmada, İnönü Üniversitesi Tıp Fakültesi Genetik Tanı Laboratuvarı’na, fenotipik dismorfogenezisin değişik klinik ön tanıları ile başvurmuş olan pediatri hastalarının, major kromozomal anomaliler yönünden retrospektif değerlendirilmesi yapıldı. Gereç ve Yöntem: Bu amaçla 204 hastanın kromozomları periferik lenfosit doku kültürü tekniği ile elde edildi ve karyotipler G-bantlama metoduyla boyanarak incelendi. Olguların klinik özellikleri, ilişkili anomaliler ve anneye ait özelliklerine ulaşıldı. Bulgular: Toplam 57 çocukta (%27,9) kromozomal anomali saptandı. Bunlar sırası ile, trizomi 21 (%21,57), Turner sendromu (%2.94), trizomi 13 (%1.96), trizomi 18 (%0.49), mozaik-trizomi 8 (%0,49) ve inv(9)(p11;q13) (%0.49) olarak belirlendi. Down sendromlu olguların %60’ından fazlasında mongoloid yüz, epikantal kıvrım, hipertelorizm, simian çizgisi, basık burun ve mikrosefali vardı. Doğumsal kalp hastalığı 13 vakada (%32,5) bulundu. Down sendromlu 37 hastada (%84,1) ileri anne yaşı saptandı. Sonuç: Araştırma sonunda elde edilen bulgular, konjenital malformasyonlara neden olan etyolojik faktörler içinde kromozomal anomalilerin önemli rol oynadığını ortaya koydu. Kromozom aberasyonlu konjenital anomalileri değerlendirirken genetikçi ve pediatristlerin ekip çalışması etyolojik tanının doğru saptanma olasılığını artırır. Bu da ebeveynlerin tekrarlama riskini azaltması dolayısıyla konjenital anomalilerin primer olarak önlenmesi bakımından önemlidir.
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  • 4
253-256
  • Turkish

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