Hypomelanosis of Ito—a nonspecific marker of somatic mosaicism: Report of case with trisomy 18 mosaicism

1 March 1990

journal article
research article
Published by Wiley in American Journal of Medical Genetics

Vol. 35 (3) , 422-424
https://doi.org/10.1002/ajmg.1320350320

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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