Genotype-Phenotype Correlates in Fragile X Syndrome
Received Date: Jan 16, 2018 / Accepted Date: Feb 01, 2018 / Published Date: Feb 08, 2018
Fragile X syndrome is a genetic disorder that affects both males and females but males are more severely affected than females. It is characterized by intellectual and learning disabilities, behavioral and or psychiatric comorbidities, mildly dysplastic connective tissue, and large testes. Fragile X cases have more than 200 repeats of the trinucleotide CGG at a fragile locus of the X chromosome (Xq27.3) which affords the basis of the molecular diagnosis of the syndrome. Although there is no current curative treatment of Fragile X syndrome, there are many available therapeutic modalities that can be used to control its manifestations and improve the quality of life of its sufferers. Lastly but by no means least, it is well documented that the earlier the diagnosis and implementation of early intervention and individualized rehabilitation programs, the better the prognosis.
Keywords: Fragile X syndrome; CGG repeats; Intellectual disability; Autism spectrum disorder; Attention deficit hyperactivity disorder; FMR1 gene; FMRP
Citation: Zaky EA (2018) Genotype-Phenotype Correlates in Fragile X Syndrome. J Child Adolesc Behav 6: 368. Doi: 10.4172/2375-4494.1000368
Copyright: © 2018 Zaky EA. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
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