FRAGILE X SYNDROME
\fɹˈad͡ʒa͡ɪl ˈɛks sˈɪndɹə͡ʊm], \fɹˈadʒaɪl ˈɛks sˈɪndɹəʊm], \f_ɹ_ˈa_dʒ_aɪ_l ˈɛ_k_s s_ˈɪ_n_d_ɹ_əʊ_m]\
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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)
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Word of the day
Dopamine Acetyltransferase
- An enzyme that catalyzes the of groups from acetyl-CoA to arylamines. They have wide specificity for aromatic amines, particularly serotonin, and can also catalyze acetyl transfer between arylamines without CoA. EC 2.3.1.5.