Fragile X Syndrome Sanjay Dick Developmental Biology 551 Eastern Mennonite University Fall 2015.

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Presentation transcript:

Fragile X Syndrome Sanjay Dick Developmental Biology 551 Eastern Mennonite University Fall 2015

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

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

Fragile X Syndrome - References Genetics home reference. Fragile X syndrome. Retrieved from http://ghr.nlm.nih.gov/condition/fragile-x-syndrome. Sept. 10, 2015. National coalition for health professional education in genetics. Management. Retrieved from http://genefacts.org/index.php?option=com_content &view=article&id=497&Itemid=730. Sept. 10, 2015. National fragile X foundation. Fragile X syndrome. Retrieved from https://fragilex.org/fragile-x-associated-disorders/fragile-x-syndrome/. Sept. 10, 2015.