Boy with a ring 7 chromosome: a case report with special reference to dermatological findings.
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.
Wahlström
J
J
Department of Neuroscience, University of Göteborg, Sweden.
Bjarnason
R
R
Rosdahl
I
I
Albertsson-Wikland
K
K
D019080:Cafe-au-Lait Spots / Q000235:genetics; D002648:Child; D002897:Chromosomes, Human, Pair 7; D002658:Developmental Disabilities / Q000235:genetics; D005146:Facial Asymmetry / Q000235:genetics; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D008297:Male; D008543:Melanins; D008544:Melanocytes / Q000378:metabolism / Q000473:pathology; D009508:Nevus, Pigmented / Q000235:genetics; D010641:Phenotype; D012303:Ring Chromosomes; D012867:Skin / Q000378:metabolism / Q000473:pathology
D008543:Melanins