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

Sijmons, R.H.; Kristoffersson, U. LU ; Tuerlings, J.H.A.M.; Ljung, R. LU ; Dijkhuis- Stoffelsma, R. and Breed, A.S.P.M. (1993) In Pediatric Dermatology 10(3). p.235-239
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... (More)
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. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
keywords
article, autosomal dominant disorder, case report, child, chromosome 4, chromosome deletion, chromosome Q band, clinical feature, cytogenetics, depigmentation, face dysmorphia, female, genetic disorder, human, mental deficiency, piebaldism, Paediatric
in
Pediatric Dermatology
volume
10
issue
3
pages
235 - 239
publisher
Blackwell
external identifiers
  • Scopus:0027293425
ISSN
0736-8046
DOI
10.1111/j.1525-1470.1993.tb00367.x
language
English
LU publication?
yes
id
f636c1a3-8f53-4774-82cf-95cc97c92131
date added to LUP
2016-11-25 13:40:15
date last changed
2016-11-27 04:45:03
@misc{f636c1a3-8f53-4774-82cf-95cc97c92131,
  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.},
  author       = {Sijmons, R.H. and Kristoffersson, U. and Tuerlings, J.H.A.M. and Ljung, R. and Dijkhuis- Stoffelsma, R. and Breed, A.S.P.M.},
  issn         = {0736-8046},
  keyword      = {article,autosomal dominant disorder,case report,child,chromosome 4,chromosome deletion,chromosome Q band,clinical feature,cytogenetics,depigmentation,face dysmorphia,female,genetic disorder,human,mental deficiency,piebaldism,Paediatric},
  language     = {eng},
  month        = {11},
  number       = {3},
  pages        = {235--239},
  publisher    = {ARRAY(0xb9c5f28)},
  series       = {Pediatric Dermatology},
  title        = {Piebaldism in a mentally retarded girl with rare deletion of the long arm of chromosome 4},
  url          = {http://dx.doi.org/10.1111/j.1525-1470.1993.tb00367.x},
  volume       = {10},
  year         = {1993},
}