The brain in partial trisomy 18: a case report.
This is a clinical and neuropathological report of a 27-year-old male with partial trisomy of the long arm of chromosome 18. Severe psychomotor retardation, blindness, and epilepsy were the major clinical features. Microcephaly, an unusual diverticulum of the left occipital lobe, and severe atrophy of the visual system were the major findings on neuropathological examination.
D000328:Adult; D001921:Brain / Q000473:pathology; D002887:Chromosomes, Human, Pair 18; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D007621:Karyotyping; D008297:Male; D008831:Microcephaly / Q000235:genetics* / Q000473:pathology; D014314:Trisomy