Abstract
THE syndrome of gargoylism is made up of a large number of abnormalities; but, until now, no method for identifying the heterozygous carrier has been developed1. The specific inclusions in the lymphocytes which have been demonstrated in patients with gargoylism2,3 have not been seen in the parents of patients. Although the blood films from parents showed no striking abnormality, they gave the impression that the nuclei of the polymorphonuclear neutrophil leucocytes had, on the average, an unusually high number of segments. In order to test the validity of this impression, a comparison was made between the blood films of eight parents of patients and twelve control adults. The former group consisted of five mothers and three fathers of gargoyle patients, while the control group was composed of ten women, each of whom had given birth to at least one child, and two men. For each person, the number of lobes in the nuclei of 300 neutrophils, from which the means were calculated, were counted without knowledge of the origin of the slide. The distributions, means and standard deviations are given in Table 1, columns (a) and (b). Although the two distributions overlap, the means of the parents of patients with gargoylism are higher than those of the control adults. The probability that this difference is due to chance is less than 1 in 100.
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MITTWOCH, U. Nuclear Segmentation of the Neutrophils in Heterozygous Carriers of Gargoylism. Nature 193, 1209–1210 (1962). https://doi.org/10.1038/1931209a0
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DOI: https://doi.org/10.1038/1931209a0
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