Fragile X Syndrome

Swati Kolpuru (Gadewar)
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Fragile X Syndrome - Diagnosis
DNA-analysis of the FMR-I gene is the best way to diagnose which is usually done on lymphocytes. Buccal smears can also be used.

WHO SHOULD BE TESTED?
- Individual seeking reproductive counseling who have a family history of fragile X syndrome or a family history of undiagnosed mental retardation.
- Prenatally, if mother known to be a carrier.
- Any child with mental retardation, autism, hyperactivity in addition to a cognitive defect, language delay, previously diagnosed with Sotos' syndrome, Asperger's syndrome, and Pierre Robin sequence, selective mutism, schizotypal personality disorder, pervasive developmental disorder.


Fragile X Syndrome Fragile X Syndrome 12/31/2013
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