Linked Life Data

8249950

Source:http://linkedlifedata.com/resource/pubmed/id/8249950

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
12
pubmed:dateCreated
1994-1-4
pubmed:abstractText
The association of Apert syndrome with a translocation (2p-;Cq+) was previously reported in this journal. On reexamination using high-resolution chromosome banding, results showed both the patient and her unaffected father carry the balanced translocation (2;9)(p11.2;q34.2). This finding suggests the rearrangement is unlikely to be the cause of her disorder. Other chromosomal anomalies and genes known to be located at or near these breakpoints and a cytogenetic survey of patients with Apert syndrome are reviewed.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0002-922X
pubmed:author
pubmed:issnType
Print
pubmed:volume
147
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
1306-8
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed:year
1993
pubmed:articleTitle
Cytogenetic survey of Apert syndrome. Reevaluation of a translocation (2;9)(p11.2;q34.2) in a patient suggests the breakpoints are not related to the disorder.
pubmed:affiliation
Department of Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD 21287-3914.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports