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.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Cafe-au-Lait Spots / genetics
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Child
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Chromosomes, Human, Pair 7*
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Developmental Disabilities / genetics
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Facial Asymmetry / genetics
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Growth Disorders / genetics
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Humans
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Karyotyping
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Male
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Melanins
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Melanocytes / metabolism
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Melanocytes / pathology
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Nevus, Pigmented / genetics
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Phenotype
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Ring Chromosomes*
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Skin / metabolism
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Skin / pathology