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Piebaldism in a Mentally Retarded Girl With Rare Deletion of the Long Arm of Chromosome 4
Author(s) -
Sijmons R. H.,
Kristoffersson U.,
Tuerlings J. H. A. M.,
Ljung R.,
DijkhuisStoffelsma R.,
Breed A. S. P. M.
Publication year - 1993
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.1993.tb00367.x
Subject(s) - girl , mentally retarded , long arm , medicine , chromosome , genetics , karyotype , thorax (insect anatomy) , anatomy , biology , gene , psychology , developmental psychology
A 4‐year‐old mentally retarded girl had congenltel depignentationft of ventrolateral parts of the chest, abdomen, and legs. She also showed dysmorphic features of the head, thorax, and extremities, a pig‐mented ring in both irises, and a hemla of the left obliquus muscle. Cytogenetic Investigations reveated deletion of chromosome 4 for the long arm segment q12‐q21. The typical depigmentations, reported in tour other patients with a similar chromosomal deletion, correspond with those in the autosomal dominant piebald trait Mutations in the Kit protooneogene (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.