Human Genetics

, Volume 44, Issue 2, pp 213–217 | Cite as

18p- Mosaicism

Case report and review
  • Tomiko Motegi
  • Akihito Ichikawa
  • Masako Noda
  • Gotaro Hashimoto
  • Makiko Kaga
Clinical Case Reports
Received:

Summary

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.

Keywords

Internal Medicine Metabolic Disease Clinical Manifestation Clinical Picture Present Report 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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References

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Copyright information

© Springer-Verlag 1978

Authors and Affiliations

  • Tomiko Motegi
    • 1
  • Akihito Ichikawa
    • 1
  • Masako Noda
    • 1
  • Gotaro Hashimoto
    • 1
  • Makiko Kaga
    • 1
  1. 1.Department of PediatricsTokyo University Branch HospitalTokyoJapan

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