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Fragile X Syndrome


Fragile X syndrome is an inherited condition that is X chromosome linked, but is recessively inherited.  It occurs with a frequency of 1 in 3,600 boys and a frequency of about 1 in 5,000 girls. In other words, there can be an apparently healthy female that is a carrier and she can have a son who gets the disease. This is a syndrome that causes mental retardation, a number of malformations in the head, heart, musculoskeletal system and also causes autism. Fragile X syndrome boys often have an elongated face with large ears; their testicles are large. 

Excessive shyness and panic attacks

These children have a social anxiety meaning that they avoid social contacts and avoid eye contact. This makes it difficult to form relationships with peers. 75% of males have excessive shyness and 50% have panic attacks. Intellectually males are more challenged than females as females have the other X chromosome that mitigates the effects of the fragile X chromosome. A study compared normal siblings and fragile X children with regard to the intellectual learning rate. In comparison with normal siblings there was a 55% slowdown in the fragile X children. The intelligence of the child can be different depending on the severity of the genetic disease. The intelligent quotient (IQ) in males can span from severe intellectual disability to below average functioning to almost normal. In females who are less affected the IQ can be normal or borderline with a learning disability.

 Fragile X Syndrome

Fragile X Syndrome

Here is an image of a child with fragile X syndrome. This image shows the genetic transmission of fragile X syndrome: For more detailed information see the references below.



2. Goldman: Cecil Medicine, 23rd ed., copyright © 2007 Saunders, An Imprint of Elsevier: CHROMOSOMAL DISORDERS

Last modified: April 26, 2021

This outline is only a teaching aid to patients and should stimulate you to ask the right questions when seeing your doctor. However, the responsibility of treatment stays in the hands of your doctor and you.