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Journals / Bakırköy Tıp Dergisi / 2006 / Cilt: 2 - Sayı: 3

Mental retardation and subtelomeric region in chromosomes

Mental retardasyon ve kromozomlarda subtelomerik bölge

Özgür ÇOĞULU
Emin KARACA
Ferda ÖZKINAY
Pages
73–81
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

In this article we aimed to discuss the reasons of mental retardation and the studies performed in mentally retarded cases related to the subtelomeric regions of the chromosomes.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Mental retardation affects about 3% of the population.
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Key Findings & Data:Recent studies have established that chromosomal abnormalities comprise 30-40% of moderate to severe mental retardation; and nearly 30% of mild mental retardation.
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Conclusion & Impact:In this article we aimed to discuss the reasons of mental retardation and the studies performed in mentally retarded cases related to the subtelomeric regions of the chromosomes.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Kromozomlar · Sitolojik teknikler · Zeka geriliği

Abstract

Mental retardation affects about 3% of the population. Final diagnosis could be reached in approximately one third of all cases, and no diagnosis is available in the rest of the patients, which is followed by repeated laboratory tests and a long time exhausting both parents and the patients. Recent studies have established that chromosomal abnormalities comprise 30-40% of moderate to severe mental retardation; and nearly 30% of mild mental retardation. Standard cytogenetic analysis is capable of detecting DNA rearrangements of larger than 3 Mb. Subtelomeric region is the part of the chromosome just before the telomere which is the end structures of the chromosomes. Fluorescent in situ hybridisation (FISH) is a molecular cytogenetic technique in which deletions or rearrangements smaller than 2-3 Mb could be detectable. Subtelomeric region accounts for a significant proportion (2.2%-23%) of cases with undiagnosed mental retardation because of high concentration of genes in this region. In this article we aimed to discuss the reasons of mental retardation and the studies performed in mentally retarded cases related to the subtelomeric regions of the chromosomes.

Özet

Mental retardasyon toplumun yaklaşık olarak %3’ünü etkiler. Olguların yaklaşık olarak 1/3’ünde tanı konulabilmektedir. Orta-ağır mental retarde olguların % 40’ında ve hafif mental retarde olguların %70’inde bu duruma yol açan neden bilinmemektedir. Standart kromozom incelemesi ile 3 Mb’dan daha büyük DNA kayıpları, kazanımları veya yer değişiklikleri tespit edilebilmektedir. Floresan in situ hibridizasyon (FISH) yöntemiyle DNA probları kullanarak 2-3 Mb’dan daha küçük kromozom anomalileri tespit edilebilir. Subtelomerik bölge kromozomları n telomer adı verilen uç kısımlarının hemen altında yer alan bölümdür. FISH ile yapılan incelemelerde idiopatik mental retarde olguların önemli bir kısmından (%2.2-%23) subtelomerik bölge anomalilerinin sorumlu olabileceği bildirilmiştir. Bu makalede mental retardasyon nedenleri ve nedeni bilinmeyen mental retarde olgularda kromozomların subtelomerik bölgesiyle ilgili yapılan çalışmalar tartışılmıştır.

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Cite This Article

ÇOĞULU, Ö., KARACA, E., ÖZKINAY, F. (2006). Mental retardation and subtelomeric region in chromosomes. Bakırköy Tıp Dergisi, Cilt: 2 - Sayı: 3, 73–81. https://ajindex.com/articles/131636

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