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Fragile X Syndrome

More information in Books or onNLM PubMed
Definition: 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)     
See Also Chromosome Fragile Sites; Chromosome Fragility; Intellectual Disability; Trinucleotide Repeat Expansion 		Other names Martin-Bell Syndrome; FRAXE Syndrome; FRAXA Syndrome; X Linked Mental Retardation and Macroorchidism; Syndromes, Marker X; Syndromes, Fragile X; Syndromes, FRAXE; Syndromes, FRAXA; Syndrome, Martin-Bell; Syndrome, Marker X; Syndrome, Fragile X; Syndrome, FRAXE; Syndrome, FRAXA; Martin Bell Syndrome; Marker X Syndromes; Fragile X Syndromes; FRAXE Syndromes; FRAXA Syndromes; X-Linked Mental Retardation and Macroorchidism; Marker X Syndrome
 
SubstanceCAS Registry & nameCategoriesSource
X fragile site folic acid type  0   *Fragile X Syndrome.
Saul Wilkes Stevenson syndrome  0   *Fragile X Syndrome.
FXR2 protein, mouse  0   *RNA-Binding Proteins Fragile X Syndrome. Hum Mol Genet 2006 Jun 15;15(12)1984-94
Fxr1h protein, mouse  0   *RNA-Binding Proteins Fragile X Syndrome Fragile X Mental Retardation Protein. Hum Mol Genet 2004 Jul 1;13(13):1291-302
FXR1 protein, human  0   *RNA-Binding Proteins Fragile X Syndrome Fragile X Mental Retardation Protein. EMBO J 1995 Nov 1;14(21):5358-66
FXR2 protein, human  0   *RNA-Binding Proteins Fragile X Syndrome Fragile X Mental Retardation Protein. EMBO J 1995 Nov 1;14(21):5358-66

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012
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