Linked Life Data

8879652

Source:http://linkedlifedata.com/resource/pubmed/id/8879652

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
1997-1-17
pubmed:abstractText
We report the case of a young patient with macrocephaly. After excluding the most frequent causes of macrocephaly (hereditary disorders, degenerative, osseous and metabolic diseases, neurocutaneous syndromes and cerebral malformations), the likelihood of a chromosome disorder was investigated, revealing an unbalanced de novo translocation: 46,X,der(X),t(X;7) (q13 or q13.2; q11.23 or q21.11), i.e., a partial trisomy of the long arm of chromosome 7, associated with a partial monosomy of the long arm of chromosome X. Though this chromosome disorder is relatively rare, it should be considered in the differential diagnosis of patients under one year of age presenting with macrocephaly, scoliosis and non-progressive psychomotor retardation.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:issn
0387-7604
pubmed:author
pubmed:issnType
Print
pubmed:volume
18
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
312-5
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:articleTitle
Macrocephaly and chromosome disorders: a case report.
pubmed:affiliation
Department of Pediatrics, University of Padua, Padova, Italy.
pubmed:publicationType
Journal Article, Case Reports