Linked Life Data

8415299

Source:http://linkedlifedata.com/resource/pubmed/id/8415299

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1993-11-24
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Sep
pubmed:issn
0736-8046
pubmed:author
pubmed:issnType
Print
pubmed:volume
10
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
235-9
pubmed:dateRevised
2011-11-17
pubmed:meshHeading
pubmed:year
1993
pubmed:articleTitle
Piebaldism in a mentally retarded girl with rare deletion of the long arm of chromosome 4.
pubmed:affiliation
Department of Medical Genetics, University Groningen, The Netherlands.
pubmed:publicationType
Journal Article, Case Reports