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

Authors
Type
Published Article
Journal
American journal of medical genetics
Publication Date
Volume
35
Issue
3
Pages
422–424
Identifiers
PMID: 2309792
Source
Medline
License
Unknown

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.

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