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rdf:type |
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|
lifeskim:mentions |
|
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pubmed:issue |
9
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pubmed:dateCreated |
1991-12-27
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pubmed:abstractText |
A female infant with Cornelia de Lange syndrome and severe limb reduction defects is described. Chromosome analysis showed a de novo translocation with breakpoints at 3q26.3 and 17q23.1. This is the first reported case of a de novo translocation associated with this syndrome.
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
|
|
pubmed:citationSubset |
IM
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|
pubmed:status |
MEDLINE
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pubmed:month |
Sep
|
|
pubmed:issn |
0022-2593
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pubmed:author |
|
|
pubmed:issnType |
Print
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pubmed:volume |
28
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pubmed:owner |
NLM
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|
pubmed:authorsComplete |
Y
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pubmed:pagination |
639-40
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:1956066-Abnormalities, Multiple,
pubmed-meshheading:1956066-Chromosome Aberrations,
pubmed-meshheading:1956066-Chromosome Disorders,
pubmed-meshheading:1956066-Chromosomes, Human, Pair 17,
pubmed-meshheading:1956066-Chromosomes, Human, Pair 3,
pubmed-meshheading:1956066-De Lange Syndrome,
pubmed-meshheading:1956066-Ectromelia,
pubmed-meshheading:1956066-Face,
pubmed-meshheading:1956066-Female,
pubmed-meshheading:1956066-Humans,
pubmed-meshheading:1956066-Infant, Newborn,
pubmed-meshheading:1956066-Phenotype,
pubmed-meshheading:1956066-Translocation, Genetic
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|
pubmed:year |
1991
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|
pubmed:articleTitle |
A de novo translocation t(3;17)(q26.3;q23.1) in a child with Cornelia de Lange syndrome.
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pubmed:affiliation |
Department of Human Genetics, University of Newcastle upon Tyne.
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pubmed:publicationType |
Journal Article,
Comparative Study,
Case Reports
|
