MARTIN BELL SYNDROME
\mˈɑːtɪn bˈɛl sˈɪndɹə͡ʊm], \mˈɑːtɪn bˈɛl sˈɪndɹəʊm], \m_ˈɑː_t_ɪ_n b_ˈɛ_l 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
tinctura quininae ammoniata
- A preparation made by dissolving quinin sulphate in alcohol [Br. Ph.].