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Dergiler / Düşünen Adam - Psikiyatri ve Nörolojik Bilimler Dergisi / 2020 / Cilt: 33 - Sayı: 3

10q distal trisomy and 15q monosomy as a rare genetic cause for intellectual disability

Cansu ULUDAĞ
Alper ALNAK
Ali KARAYAGMURLU
Sayfa
313–316
DOI
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⚡ TL;DR(1 Cümlede Hızlı Çıkarım)

Both trisomy 10q and monosomy 15q syndromes are rare diseases with distinctive clinical profiles.

📌 3 Maddede Bu Makale

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Amaç & Hipotez:Intellectual disability (ID) is defined as a neurodevelopmental disorder.
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Temel Bulgular & Veri:The prevalence is 1% to 3%.
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Sonuç & Katkı:Both trisomy 10q and monosomy 15q syndromes are rare diseases with distinctive clinical profiles.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri

Özet

Intellectual disability (ID) is defined as a neurodevelopmental disorder. The prevalence is 1% to 3%. Genetic factors strongly contribute to the etiology of ID; however, the origin remains unknown in up to 60% of the cases. De novo mutations are a common genetic cause in sporadic cases of ID. This report describes the cases of 2 siblings with distinctive phenotypical features and neurodevelopmental disorders with an unbalanced translocation, (46,XX,der[15]t[10;15][q24.3;26.1]mat), resulting in trisomy of the long arm of chromosome 10 and monosomy of the long arm of chromosome 15. The cases are thought to be associated with distal trisomy 10q syndrome and monosomy 15q syndrome. Both trisomy 10q and monosomy 15q syndromes are rare diseases with distinctive clinical profiles.

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Bu Makaleye Atıf Yap

ULUDAĞ, C., ALNAK, A., KARAYAGMURLU, A. (2020). 10q distal trisomy and 15q monosomy as a rare genetic cause for intellectual disability. Düşünen Adam - Psikiyatri ve Nörolojik Bilimler Dergisi, Cilt: 33 - Sayı: 3, 313–316. https://ajindex.com/articles/217725

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Kaynakça (13)

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