Xtraordinary Joy

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Xq27-q28 DELETION

Possible symptoms

• Low muscle tone resulting in delayed crawling, walking
• Sensory Processing Disorder
• Gag reflex, swallow difficulty, sucking difficulty, oral aversion, teeth grinding
• Drooling
• Chronic sinus and ear infections
• Autism; non-verbal
• Seizures
• Intellectual disability
• Constipation
• Some families have reported breathing issues, organ anomalies, growth problems

Underlying disorders within deletion

• Fragile X Syndrome due to FMR1 gene deletion: Fragile X Syndrome
• Hunter Syndrome (Mucopolysaccharidosis II) due to IDS gene deletion: Hunter Syndrome

University of Florida scientists are teaming up to examine the effects of gene deletion on biochemical pathways and attempt to rescue brain circuitry with targeted therapies.

University of Florida College of Medicine

• Center for Cellular Reprogramming
• Department of Neuroscience