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February 1968

Cerebellar Changes in Association With "Partial" Trisomy 18

Author Affiliations

From the Brain Laboratory (Dr. Terplan) and the Division of Human Genetics (Dr. Cohen) Department of Pediatrics, Children's Hospital of Buffalo (Drs. Terplan and Cohen), and the State University of New York at Buffalo, Medical School, Buffalo.

Am J Dis Child. 1968;115(2):179-184. doi:10.1001/archpedi.1968.02100010181005

SEVERAL RECENT publications describe distinct structural anomalies in various parts of the cerebellum, including the white matter, roof nuclei, and the dentates, in the trisomy 13-15 syndrome.1-4 A striking duplicity of observations resulted from the simultaneous investigation of five cases in the Burden Neuropathological Laboratory of the Frenchay Hospital in Bristol3 and five cases in the Brain Laboratory of the Children's Hospital in Buffalo.4 Since similar changes, including in particular large accumulations of external granular layer cells in the white matter and in the dentate nuclei, have not been seen thus far in the cerebellum of infants with the trisomy 18 syndrome (examined in a nearly equal number of cases, four in one laboratory3 and five in the other4), the need for detailed study of the central nervous system (CNS), and of the cerebellum in particular, in all cases of trisomy is emphasized.3,4 Only

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