Septo-optic dysplasia and dentato-olivary dysplasia in a case of 18q deletion/3p trisomy.
The brain of an 1 8q deletion/3p trisomy patient is described. The findings revealed septo-optic dysplasia, dentato-olivary dysplasia, deficiency of myelination and disordered neuronal migration. Many of these pathological changes overlap the findings previously described in 18q deletion. An understanding of the pathological changes in the brain of these individuals provides the basis for therapeutic management of their symptoms.
Singh
V
V
Department of Anatomic Pathology, Children's Hospital, Columbus, OH 43205, USA.
Boesel
C P
CP
Baker
P
P
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D001921:Brain / Q000002:abnormalities*; D002872:Chromosome Deletion; D002887:Chromosomes, Human, Pair 18; D002893:Chromosomes, Human, Pair 3; D006801:Humans; D007223:Infant; D008297:Male; D025962:Septo-Optic Dysplasia / Q000473:pathology*; D014314:Trisomy / Q000473:pathology*