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Hypomelanosis of Ito presenting with pediatric orthopedic issues: a case report

✍ Scribed by Malene Trägårdh,Christine Rohr Thomsen…

Book ID
126377748
Publisher
BioMed Central
Year
2014
Tongue
English
Weight
527 KB
Volume
8
Category
Article
ISSN
1752-1947

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Hypomelanosis of Ito—a nonspecific marke
Hypomelanosis of Ito—a nonspecific marker of somatic mosaicism: Report of case with trisomy 18 mosaicism
✍ Chitayat, David ;Friedman, J. M. ;Johnston, Margaret M. 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 333 KB 👁 2 views

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 neuroectod