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Fragile X Syndrome Sanjay Dick Developmental Biology 551 Eastern Mennonite University Fall 2015
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Fragile X Syndrome Fragile X - a genetic disorder that results in abnormal mental and physical characteristics. Clinical signs Mental impairments Delayed onset of speech (2 yrs) Social anxiety ADD Seizures (15% M; 5% F) Physical abnormalities Elongated face with prominent jaw Increased ear size Overly flexible joints Enlarged testicles Incidence Males (more common) 1/4000 Females 1/8000
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Fragile X Syndrome Mutation in Fragile Mental Retardation 1 (FMR1) gene Instructions for FMR1 protein Proteins Synaptic development Cause CGG repeat CGGx5 CGGx40 CGG > 200 Management No cure Early intervention is crucial
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Fragile X Syndrome - References
Genetics home reference. Fragile X syndrome. Retrieved from Sept. 10, 2015. National coalition for health professional education in genetics. Management. Retrieved from &view=article&id=497&Itemid=730. Sept. 10, 2015. National fragile X foundation. Fragile X syndrome. Retrieved from Sept. 10, 2015.
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