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Am J Med Genet. 1990 Mar;35(3):422-4.

Hypomelanosis of Ito--a nonspecific marker of somatic mosaicism: report of case with trisomy 18 mosaicism.

Author information

1
Department of Medical Genetics, University Hospital Shaughnessy Site, University of British Columbia, Vancouver, Canada.

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.

PMID:
2309792
DOI:
10.1002/ajmg.1320350320
[Indexed for MEDLINE]

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