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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/f636c1a3-8f53-4774-82cf-95cc97c92131
- author
- Sijmons, R.H.
; Kristoffersson, U.
LU
; Tuerlings, J.H.A.M.
; Ljung, R.
LU
; Dijkhuis- Stoffelsma, R.
and Breed, A.S.P.M.
- organization
- publishing date
- 1993-11-25
- 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
- Wiley-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
- 2021-10-03 04:56:11
@article{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}},
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}},
language = {{eng}},
month = {{11}},
number = {{3}},
pages = {{235--239}},
publisher = {{Wiley-Blackwell}},
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}},
doi = {{10.1111/j.1525-1470.1993.tb00367.x}},
volume = {{10}},
year = {{1993}},
}