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Boy with a ring 7 chromosome: a case report with special reference to dermatological findings
J Wahlström1, R Bjarnason, I Rosdahl
1Department of Neuroscience, University of Göteborg, Sweden.
Acta Paediatrica (Oslo, Norway : 1992)
|October 1, 1996
Abstract:
A ring chromosome 7 was found in an 8-year-old boy investigated on account of short stature and facial dysmorphism. He had a fair skin, almost white hair, cafe-au lait spots and many black atypical pigmented naevi. Electron microscopy of his skin revealed structural changes in melanocytes and keratinocytes, suggesting disturbed cell growth and differentiation.