Konjenital Malformasyonlu Olgularda Kromozomal Anomaliler

Abstract

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.

Keywords

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