PEDIATRICS Vol. 37 No. 2 February 1966, pp. 260-269
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PARTIAL 18 MONOSOMY IN THE CYCLOPS MALFORMATION

H. M. Nitowsky M.D.1, N. Sindhvananda M.D.1, U. R. Konigsberg Ph.D.1, and T. Weinberg M.D.1

1 Departments of Pediatrics and Pathology, the Sinai Hospital and the Johns Hopkins University School of Medicine, Baltimore, Maryland

The morphologic and cytologic findings have been described in a newborn infant with cyclops but without malformation involving other systems. A cytologic abnormality was found consisting of a deletion of the short arms of one of the E chromosomes, which on the basis of size and radioautographic studies has been identified as a number 18 chromosome. These findings resemble those of another patient with cyclops malformation and suggest the presence of a characteristic chromosomal defect in this unusual teratism. On the other hand, the different abnormalities in other cases of partial monosomy 18 illustrates the phenotypic variability which can be observed in association with apparently similar chromosomal aberrations.

Submitted on June 1, 1965
Accepted on July 29, 1965




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