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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4
|
pubmed:dateCreated |
1994-5-17
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pubmed:abstractText |
Paracentric inversions, involving a rearrangement within one chromosome arm, are rare. Although carriers of balanced paracentric inversions should theoretically not be at risk for abnormal offspring, such cases have been reported. We report on 2 unrelated cases of inherited paracentric inversions of 1p with breakpoints at p32 and p36.1 and p32.3 and p36.22 in individuals with abnormal phenotypes. Another case of 2 abnormal monozygotic twins with a de novo paracentric inversion of 1p with breakpoints at p22 and p34 is presented as well.
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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 |
Feb
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pubmed:issn |
0148-7299
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pubmed:author | |
pubmed:issnType |
Print
|
pubmed:day |
15
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pubmed:volume |
49
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
410-3
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:8160735-Abnormalities, Multiple,
pubmed-meshheading:8160735-Cells, Cultured,
pubmed-meshheading:8160735-Child, Preschool,
pubmed-meshheading:8160735-Chromosome Fragility,
pubmed-meshheading:8160735-Chromosome Inversion,
pubmed-meshheading:8160735-Chromosomes, Human, Pair 1,
pubmed-meshheading:8160735-Humans,
pubmed-meshheading:8160735-Infant,
pubmed-meshheading:8160735-Infant, Newborn,
pubmed-meshheading:8160735-Male,
pubmed-meshheading:8160735-Phenotype,
pubmed-meshheading:8160735-Twins, Monozygotic
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pubmed:year |
1994
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pubmed:articleTitle |
Three unrelated cases of paracentric inversions of 1p in individuals with abnormal phenotypes.
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pubmed:affiliation |
Department of Medical Genetics, Western Pennsylvania Hospital 15224.
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pubmed:publicationType |
Journal Article,
Review,
Case Reports
|