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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
5
|
pubmed:dateCreated |
1979-1-15
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pubmed:abstractText |
Two unrelated children with features of the Cornelia de Lange syndrome, including mental retardation, growth retardation, glaucoma, and a similar facies, had duplications corresponding to bands q25 leads to q29 of chromosome 3. These patients were compared to others with duplications of chromosome 3 and to a large series of patients with Cornelia de Lange syndrome. Diseases that sometimes involve characteristic chromosomal changes but have normal chromosomes in other instances are discussed.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
AIM
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pubmed:chemical | |
pubmed:status |
MEDLINE
|
pubmed:month |
Nov
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pubmed:issn |
0022-3476
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pubmed:author | |
pubmed:issnType |
Print
|
pubmed:volume |
93
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
|
pubmed:pagination |
783-8
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:712481-Azure Stains,
pubmed-meshheading:712481-Child,
pubmed-meshheading:712481-Chromosome Aberrations,
pubmed-meshheading:712481-Chromosome Disorders,
pubmed-meshheading:712481-Chromosomes, Human, 1-3,
pubmed-meshheading:712481-De Lange Syndrome,
pubmed-meshheading:712481-Female,
pubmed-meshheading:712481-Humans,
pubmed-meshheading:712481-Karyotyping,
pubmed-meshheading:712481-Male
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pubmed:year |
1978
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pubmed:articleTitle |
The association of chromosome 3 duplication and the Cornelia de Lange syndrome.
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pubmed:publicationType |
Journal Article,
Case Reports
|