İDİYOPATİK MENTAL RETARDASYONLARDA FRAJİL-X SENDROMU ARAŞTIRILMASI

Cilt: 39 Sayı: 2 1 Haziran 2000
  • Cumhur Gündüz
  • Özgür Çoğulu
  • Cihangir Özkınay
  • Sarenur Tütüncüoğlu
  • Gül Sapmaz
  • Mehmet Kösem
  • Ferda Özkinay
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INVESTIGATION OF FRAGILE X SYNDROME IN IDIOPATHIC MENTAL RETARDATION

Abstract

The fragile X syndrome is the most common cause of inherited mental deficiency and the second most frequent chromosomal cause of mental deficiency after Down syndrome. Cytogenetic diagnosis of the fragile X syndrome can be made by analyzing the metaphase chromosomes from lymphocytes culturing in folat-timidin deficient medium. Recently the gene causing fragile X syndrome has been cloned and molecular diagnosis has become available. in this study 66 mentally retarded patients who were referred to Ege University Medical Faculty Genetics Laboratories (both in Pediatrics Department and in Medical Biology Department) for cytogenetic analysis were investigated. For ali cases we applied both standard and fragile X (using folat deficient medium) cytogenetic studies. İn every patient 100 metaphases were analyzed to diagnose fragile X. Constitutional fragile sites which had been described before in normal individuals were evaluated to control whether the fragile X medium worked. 18 patients out of 66 patients were examined by pediatric neurologist and a clinical geneticist in Pediatrics department of Ege University Medical Faculty. Blood samples from the remaining patients were sent by the other hospital in Aegean region. The clinical findings of 18 patients were evaluated in detail. The common finding in ali cases was mental retardation. On admission the first three complaints were developmental delay, convulsions and speech difficulties. Two cases of 66 (3.03%) were diagnosed as having fragile X cytogenetically. One case had the chromosome composition of 49,XXXXY. Our results were coincided to the results, which have been reported in similar studies on the same type of populations. İt is widely known that molecular methods are more reliable in the diagnosis of fragile X syndrome. However this is, at present, not available in our hospital. Our study has shown that cytogenetic method can be effectively used for diagnosis of fragile X until the molecular methods are available.

Keywords

Ayrıntılar

Birincil Dil

Türkçe

Konular

-

Bölüm

-

Yazarlar

Cumhur Gündüz

Özgür Çoğulu

Cihangir Özkınay

Sarenur Tütüncüoğlu

Gül Sapmaz

Mehmet Kösem

Ferda Özkinay

Yayımlanma Tarihi

1 Haziran 2000

Gönderilme Tarihi

1 Haziran 2000

Kabul Tarihi

-

Yayımlandığı Sayı

Yıl 2000 Cilt: 39 Sayı: 2

IZ

https://izlik.org/JA67JM34WJ

Kaynak Göster

RIS / Bibtex
Vancouver
1.Cumhur Gündüz, Özgür Çoğulu, Cihangir Özkınay, Sarenur Tütüncüoğlu, Gül Sapmaz, Mehmet Kösem, Ferda Özkinay. İDİYOPATİK MENTAL RETARDASYONLARDA FRAJİL-X SENDROMU ARAŞTIRILMASI. ETD [Internet]. 01 Haziran 2000;39(2):97-104. Erişim adresi: https://izlik.org/JA67JM34WJ

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