PARTIAL TRISOMY 21 DOWN SYNDROME
\pˈɑːʃə͡l tɹˈa͡ɪsəmɪ twˈɛntiwˈɒn dˌa͡ʊn sˈɪndɹə͡ʊm], \pˈɑːʃəl tɹˈaɪsəmɪ twˈɛntiwˈɒn dˌaʊn sˈɪndɹəʊm], \p_ˈɑː_ʃ_əl t_ɹ_ˈaɪ_s_ə_m_ɪ t_w_ˈɛ_n_t_i_w_ˈɒ_n d_ˌaʊ_n s_ˈɪ_n_d_ɹ_əʊ_m]\
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A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe MENTAL RETARDATION. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
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