Cerebello-cortical heterotopia in dentate nucleus, and other microdysgeneses in trisomy D1 (Patau) syndrome.
Several new histological findings in six cases of the trisomy D1 syndrome are described: hyperplasia of fetal structures (indusium griseum, median raphe of the medulla oblongata) and completely developed cerebellar cortical heterotopia in the dentate nucleus. In one case, a heterotopic pontine nucleus was found within the cerebellar white matter. The coexistence of overdeveloped and remaining fetal structures is emphasized. Several hypotheses regarding cerebellar dysgenesis are discussed.
D001921:Brain / Q000473:pathology; D001932:Brain Neoplasms / Q000235:genetics / Q000473:pathology; D001933:Brain Stem / Q000473:pathology; D002525:Cerebellar Cortex / Q000002:abnormalities*; D002528:Cerebellar Neoplasms / Q000235:genetics* / Q000473:pathology; D002529:Cerebellar Nuclei / Q000473:pathology; D002531:Cerebellum / Q000473:pathology; D002828:Choristoma / Q000235:genetics* / Q000473:pathology; D002901:Chromosomes, Human, 13-15; D005260:Female; D006801:Humans; D006965:Hyperplasia; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D014314:Trisomy