Yukarı Mısır'da otizm spektrum bozukluğu olan çocuklarda kromozomal sapmalar

Amaç: Otizm spektrum bozukluklarının (OSB) patogenezi karmaşıktır ve tam olarak açık değildir. Genetik etkenler OSB'nin ortaya çıkmasına katkıda bulunur. Bununla birlikte, OSB'nin genetiği son derece heterojendir. Kromozomal sapmalar sendromik olan ve sendromik olmayan OSB'nin ikisinde de genetik anormalliklerde kilit rol oynarlar. Yöntem: Çalışmamızda Yukarı Mısır'daki beş ilden 3-13 yaşları arasındaki (132 erkek, 99 kız) 231 Mısırlı çocuk örnekleminde karyotipleme yaptık. Sonuçlar: Çalışmamızda 11 (%4.7) hastada kromozomal anormallikler bulundu. Beş hastanın cinsiyet koromozomu anoploidisinin olduğunu bulduk; iki hastada Turner sendromu, iki hastada 47,XYY, bir hastada 47,XXY vardı. Ayrıca üç hastada Down sendromu, bir hastada monozomi 1p36, bir hastada Williams-Beuren sendromu, bir hastada kromozom 13'ün uzun kolunda delesyon saptadık. Tartışma: Bu çalışma OSB ve bazı kromozomal sapmalar arasında ilişki bulgularını destekler. Bu çalışma, OSB hastalarının değerlendirilmesinde karyotiplemenin önemi konusunda klinisyenleri uyarıcıdır.

Chromosomal aberrations in children with autism spectrum disorders in Upper Egypt

Objective: The pathogenesis of autism spectrum disorders (ASD) is complex and still not clear. Genetic factors contribute to the occurrence of ASD. However, the genetics of ASD is highly heterogeneous. Chromosomal aberrations have a key role to the genetic abnormalities of both syndromic and non-syndromic ASD. Methods: In our study, we conducted karyotyping analysis in a sample of 231 Egyptian children with ASD aged 3-13 years (132 males and 99 females) from five Governorates in Upper Egypt. Results: Eleven patients (4.7%) were found to have chromosomal abnormalities in this study. We found five patients having sex chromosome aneuploidy, including two patients with Turner syndrome, two with 47,XYY and one with 47,XXY. In addition, we detected three patients have Down syndrome, one patient has monosomy 1p36, one patient has Williams-Beuren syn-drome and one patient has a deletion of the long arm of chromosome 13. Conclusions: The present study rein-forces the findings of the association between some chromosomal aberrations and ASD. Further investigations into these regions may lead to discovery of new genes involved in ASD. The present study directs the attention of the clinicians about the importance of karyotyping in the evaluation of ASD patients.

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Anadolu Psikiyatri Dergisi-Cover
  • ISSN: 1302-6631
  • Yayın Aralığı: Yılda 6 Sayı
  • Başlangıç: 2000
  • Yayıncı: -
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