Piebaldism in a mentally retarded girl with rare deletion of the long arm of chromosome 4

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.

Kristoffersson, U.Erasmus University Rotterdam(Swepub:lu)kgen-ukr (författare)
Tuerlings, J.H.A.M.Erasmus University Rotterdam (författare)
Ljung, R.Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine(Swepub:lu)pedi-rlj (författare)
Dijkhuis- Stoffelsma, R.Erasmus University Rotterdam (författare)
Breed, A.S.P.M.Erasmus University Rotterdam (författare)
Erasmus University RotterdamPediatrik, Lund (creator_code:org_t)

Av författaren/redakt...: Sijmons, R.H.; Kristoffersson, ...; Tuerlings, J.H.A ...; Ljung, R.; Dijkhuis- Stoffe ...; Breed, A.S.P.M.

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