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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
|
pubmed:dateCreated |
1982-4-22
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pubmed:abstractText |
A girl with delayed growth in body height and weight, retarded psychomotor development, facial dysmorphism, high-arched palate, extension defects of elbows, and a probable hearing impairment is presented. A chromosome investigation by both conventional and high-resolution banding techniques revealed an apparently pure interstitial deletion of the proximal segment of the short arm of chromosome 3 (46,XX,del(3) (p11p14.2) de novo). The paternal karyotype is 47,XYY. The clinical features of the patient are compared with those of two previously reported cases in the literature with an interstitial 3p deletion.
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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:issn |
0340-6717
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pubmed:author | |
pubmed:issnType |
Print
|
pubmed:volume |
59
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pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
178-81
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:7327578-Abnormalities, Multiple,
pubmed-meshheading:7327578-Chromosome Banding,
pubmed-meshheading:7327578-Chromosome Deletion,
pubmed-meshheading:7327578-Chromosomes, Human, 1-3,
pubmed-meshheading:7327578-Female,
pubmed-meshheading:7327578-Humans,
pubmed-meshheading:7327578-Infant,
pubmed-meshheading:7327578-Karyotyping,
pubmed-meshheading:7327578-Phenotype,
pubmed-meshheading:7327578-Psychomotor Disorders
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pubmed:year |
1981
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pubmed:articleTitle |
A girl with an interstitial deletion of the short arm of chromosome 3 studied with a high-resolution banding technique.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
|