title: Piebaldism in a mentally retarded girl with rare deletion of the long arm of chromosome 4.
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.
authors.affiliation: Department of Medical Genetics, University Groningen, The Netherlands.
authors.forename: R H
authors.initials: RH
authors.lastname: Sijmons
authors.forename: U
authors.initials: U
authors.lastname: Kristoffersson
authors.forename: J H
authors.initials: JH
authors.lastname: Tuerlings
authors.forename: R
authors.initials: R
authors.lastname: Ljung
authors.forename: R
authors.initials: R
authors.lastname: Dijkhuis-Stoffelsma
authors.forename: A S
authors.initials: AS
authors.lastname: Breed
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D016116:Piebaldism / Q000235:genetics*