Konjenital Malformasyonlu Olgularda Kromozomal Anomaliler
Çalışmamızda konjenital malformasyonlu olgularda kromozomal anomali frekansını belirlemek amacıyla hastaların kromozomal yapısı saptandı. Tüm olgulara standart periferik kan kültürü ve Giemsa bantlama tekniği uygulandı. Sitogenetik analizi yapılan 658 olgudan 130 olgu Down sendromu, 2 olgu Edward's sendromu, 2 olgu Patau's sendromu, 5 olgu Turner sendromu, 1 olgu Klinefelter sendromu, bir olgu tetrazomi X, 5 olgu kromozomal delesyonlu ve 1 olgu da triploidi idi. Hastaların %22.3'ünde kromozomal anomaliye rastlandı. Kromozomal anomalilerin %91'i sayısal, %9'u ise yapısal düzensizliklerdi. Sonuç olarak, konjenital malformasyonlu olgulara rutin karyotip analizi yapılmalıdır
Chromosomal Abnormalities in Cases with Congenital Malformations
In this study we have investigated the chromosomal constitution of patients with congenital malformations in order to determine chromosomal anomaly frequencies. The conventional GTG banding patterns were routinely employed for chromosome identification. Among the 658 individuals with congenital malformations who were analyzed there were 130 cases of Down's syndrome, 2 of Edward's syndrome, 2 of Patau's syndrome, 5 of Turners syndrome, 1 of Klinefelters syndrome, 1 of tetrazomy X, 5 cases of chromosomal deletion, 1 case of triploidy. We found abnormal chromosomes in 22.3% of patients, 91% of which were num e rical abnormalities, remaining 9% being structural variants. We conclude that patients with congenital malformations should be routinely karyotyped.
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- Yayın Aralığı: Yılda 4 Sayı
- Başlangıç: 1980
- Yayıncı: Ondokuz mayıs Üniversitesi Tıp Fakültesi
Sayıdaki Diğer Makaleler
F. ÜLGER, , B. SARIHASAN, A. ŞENEL
B. KANDEMİR, M. KEFELİ, , L. YILDIZ, F. KARAGÖZ
Samsun ve Çevresinde 2000-2005 Yılları Arasında Amniyosentez Sitogenetik Analiz
N. KARA, G. ÖKTEN, S.Ö. GÜNEŞ, İ. KOÇAK, S. YİĞİT, Ş. TURAL, E. TAŞKIN, F.A. PINARLI
D. AYGÜN, S. GENÇ, F. YILDIRIM, A. BAYDIN, Z. DOĞANAY, H. GÜVEN
S. GÜNEŞ, G. ÖKTEN, N. KARA, S. YİĞİT, Ş. TURAL, , E. TAŞKIN, N. KARAKUŞ