Fragile X Syndromes

《英文msh詞典》Fragile X Syndromes
[入口詞] Fragile X Syndromes
[主題詞] Fragile X Syndrome
[英文釋義] 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. MENTAL RETARDATION 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)