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We have experienced a case of 18p- syndrome in 22 month old girl who had craniofacial anomaly such as microcephaly, hypertelorism, nystagmus, depressed nasal bridge, complete bilateral cleft palate, both ear canal stenosis and mental retardation. Chromosome culture revealed short arm deletion of chromosome 18 in E group. As far as we know, this case is the first report of... |
