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- Sijmons, R.H., et al.
(författare)
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Piebaldism in a mentally retarded girl with rare deletion of the long arm of chromosome 4
- 1993
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Ingår i: Pediatric Dermatology. - : Wiley. - 0736-8046 .- 1525-1470. ; 10:3, s. 235-239
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Tidskriftsartikel (refereegranskat)abstract
- A 4-year-old mentally retarded girl had congenital depigmentations of ventrolateral parts of the chest, abdomen, and legs. She also showed dysmorphic features of the head, thorax, and extremities, a pigmented ring in both irises, and a hernia of the left obliquus muscle. Cytogenetic investigations revealed deletion of chromosome 4 for the long arm segment q12-q21. The typical depigmentations, reported in four other patients with a similar chromosomal deletion, correspond with those in the autosomal dominant piebald trait. Mutations in the Kit protooncogene (mapped to the chromosome (4q11-4q12 region) have been found in patients affected with this dominant disorder. Piebaldism in children with developmental delay and dysmorphic features should alert the physician to the possibility of a deletion of the long arm of chromosome 4.
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