Hypomelanosis of Ito—a nonspecific marker of somatic mosaicism: Report of case with trisomy 18 mosaicism
Authors:
- 1 March 1990
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 35 (3) , 422-424
Abstract
We report on a patient with hypomelanosis of Ito (HI), developmental delay, recurrent pneumonia, and facial asymmetry. Chromosome analysis done on blood and on one of three skin biopsies showed trisomy 18 mosaicism. This is the first report of HI associated with trisomy 18 mosaicism. This neuroectodermal disorder appears to be a nonspecific manifestation of chromosome mosaicism.Keywords
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