A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci FRAXA or FRAXE) and phenotypically by cognitive impairment, hyperactivity, SEIZURES, language delay, and enlargement of the ears, head, and testes. INTELLECTUAL DISABILITY occurs in nearly all males and roughly 50% of females with the full mutation of FRAXA. (From Menkes, Textbook of Child Neurology, 5th ed, p226)
    

concept

Mission to Lars.

The gene genie.

Screening for fragile x syndrome / Jenni Murray [and others].

Fragile x syndrome : diagnosis, treatment, and research / edited by Randi Jenssen Hagerman and Paul J. Hagerman.

Y the X? : unravelling intellectual disability and autism / Gillian Turner.

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Fragile X Syndrome

Catalogue

Mission to Lars.

The gene genie.

Screening for fragile x syndrome / Jenni Murray [and others].

Fragile x syndrome : diagnosis, treatment, and research / edited by Randi Jenssen Hagerman and Paul J. Hagerman.

Y the X? : unravelling intellectual disability and autism / Gillian Turner.