10q distal trisomy and 15q monosomy as a rare genetic cause for intellectual disability
Open Access
- 1 January 2020
- journal article
- research article
- Published by Kare Publishing in Dusunen Adam the Journal of Psychiatry and Neurological Sciences
- Vol. 33 (3), 313-316
- https://doi.org/10.14744/dajpns.2020.00096
Abstract
Intellectual disability (ID) is a neurodevelopmental disorder with a prevalence of %1-3. Genetic factors contribute strongly to the etiology of ID and it remains unknown in up to 60% of the cases. De novo mutations represents a common genetic cause in sporadic cases of ID. In this paper, we aimed to present two 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 the chromosome 15. These cases are thought to be associated with distal trisomy 10q and monosomy 15q syndromes, respectively. Both trisomy 10q and monosomy 15q are rare diseases with a distinctive clinical profile described. Zihinsel Yetersizlik (ZY), sıklığı %1-3 arasında görülen, nörogelişimsel bir bozukluktur. ZY’nin etyolojisinde genetik faktörlerin önemli katkısı olduğu bilinmesine rağmen, vakaların %60’ına yakınında altta yatan sebep tanımlanamamaktadır. Sporadik vakalarda, de novo mutasyonlar etyolojide en sık rol oynayan genetik etmenlerdir. Bu yazıda, kromozom 10’un uzun kolunun trizomisi ve kromozom 15’in uzun kolunun monozomisi ile sonuçlanan [46, XX der (15) t(10;15)(q24.3;26.1)mat] dengesiz translokasyonuna sahip, belirgin fenotipik özellikler ve ZY tanısı alan iki olgunun sunulması amaçlanmıştır. Vakalar distal trizomi 10q ve monozomi 15q sendromları ile ilişkili olarak değerlendirildi. Bu yazı, bu sendromların, ayırt edici klinik profile sahip nadir rastlanan genetik durumlar olmaları nedeniyle sunulmuştur.Keywords
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