Linked Life Data

1583663

Source:http://linkedlifedata.com/resource/pubmed/id/1583663

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
1992-6-12
pubmed:abstractText
We report on a new case of a single band duplication of the long arm of chromosome 7, dir dup (7)(q36----qter). The major manifestations are developmental delay (particularly speech), frontal bossing, macrocrania, and constant drooling. When compared with other cases involving a 7q duplication of various segments, our patient has a few minor anomalies. This case illustrates the genotype/phenotype correlation in a child with a single band duplication which has resulted in duplication of 7q36----qter. A tabulation of reported cases with duplication of various segments of 7q is provided, which may serve as an aid for clinicians.
pubmed:commentsCorrections
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0022-2593
pubmed:author
pubmed:issnType
Print
pubmed:volume
29
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
344-5
pubmed:dateRevised
2009-11-18
pubmed:meshHeading
pubmed:year
1992
pubmed:articleTitle
Tandem duplication of the terminal band of the long arm of chromosome 7 (dir dup (7)(q36----qter)).
pubmed:affiliation
Division of Genetics, Long Island College, Hospital-SUNY Health Science Center, Brooklyn 11201.
pubmed:publicationType
Journal Article, Case Reports