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18p- Mosaicism

Case report and review

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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.

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Correspondence to Tomiko Motegi.

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Motegi, T., Ichikawa, A., Noda, M. et al. 18p- Mosaicism. Hum Genet 44, 213–217 (1978). https://doi.org/10.1007/BF00295417

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  • Internal Medicine
  • Metabolic Disease
  • Clinical Manifestation
  • Clinical Picture
  • Present Report