Linked Life Data

7296937

Source:http://linkedlifedata.com/resource/pubmed/id/7296937

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1982-1-9
pubmed:abstractText
Two female infants with apparently identical interstitial deletions at bands p13 to p15 of chromosome 7 are presented. They differ in phenotype. The first infant has failure to thrive, retardation in development, normal head circumference with ridged metopic suture, blepharophimosis, epicanthal folds, mild hypotelorism, small low-set ears, and a bifid right toe. The second infant has a normal weight, length, and head circumference, blepharophimosis, epicanthal folds, widely spaced nipples, enlarged clitoris, and very large hands and feet. The two patients' clinical and karyotypic findings are compared with previous reports of structural abnormalities of the short arm of chromosome 7. Of the three cases in the literature, craniosynostosis was present in the two patients with deletion of band 7p14. Our observations, thus, suggest that deletion of bands 7p13 to 7p15, in contrast to more distal deletions at band 7p2, is not associated with craniosynostosis.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0009-9163
pubmed:author
pubmed:issnType
Print
pubmed:volume
19
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
456-61
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1981
pubmed:articleTitle
Interstitial deletion of the short arm of chromosome 7 without craniosynostosis.
pubmed:publicationType
Journal Article, Case Reports