fragile X syndrome
Fragile X syndrome is characterized by mental retardation, autistic-like behavior and other physical abnormalities. Though it is usually most severe/more common in males (they are more susceptible because they have only one X chromosome whereas females have two), both males and females can be affected and their karyotype shows a gap (the fragile site) on the long arm of the X chromosome.
Selected fragile X syndrome links:
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