18p- Mosaicism
- 1 January 1978
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 44 (2) , 213-217
- https://doi.org/10.1007/bf00295417
Abstract
The case of a 5-month-old male infant with 18p- mosaic, who has intractable seizures and severe ophthalmological abnormalities in addition to many clinical manifestations usually described in the 18p- syndrome, is reported. The proportions of abnormal cells are 7–8% in blood and 55% in skin. About 35% of the short arm of chromosome 18 is deleted. To our knowledge the present report is the fifth one of 18p- mosaic. The main interest of this case resides in the fact that it shows a serious clinical picture despite the low proportion of abnormal cells in blood and the small degree of deletion of the short arm of chromosome 18.This publication has 9 references indexed in Scilit:
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