Medical Journal of Clinical Trials & Case Studies (MJCCS)

ISSN: 2578-4838

Short Communication

The Genetic Dosage Imbalance Linked to Clinical Brain Alterations and Mental Disability in Down Syndrome Could be Targeted for Therapeutics Development

Authors: Rachidi M

DOI: 10.23880/mjccs-16000150

Abstract

Trisomy of human chromosome 21 is a major cause of Mental Disability and other clinical phenotypic abnormalities such as hypotonia, skeletal and heart defects, immunological and haematological defects, collectively known as Down syndrome, affecting 1/700 live births. The Mental Disability remains the invariable hallmark of Down syndrome and its more invalidating pathological aspect with a hard impact in the public health. This cognitive disorder is mainly a consequence of functional and developmental alterations in neurogenesis, neuronal differentiation, myelination, dendritogenesis and synaptogenesis [1].

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