Miller-Dieker syndrome and monosomy 17p13: a new case.
A 12-year-old boy is described with multiple anomalies and a de novo terminal deletion of 17p13. Based on clinical examination, the Miller-Dieker syndrome was diagnosed.
Department of Hygiene and Epidemiology, Albert Szent-Györgyi Medical University, Szeged, Hungary.
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D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17; D006801:Humans; D008297:Male; D013577:Syndrome