|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
4
|
|
pubmed:dateCreated |
1993-4-30
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|
pubmed:abstractText |
Twelve infants with diaphragmatic hernias plus other anomalies who had mosaicism for tetrasomy isochromosome 12p (Pallister-Killian syndrome) are reviewed. A newborn infant with a diaphragmatic hernia plus dysmorphic features and a normal peripheral blood karyotype should have chromosome analysis performed on fibroblasts or bone marrow.
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|
pubmed:language |
eng
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|
pubmed:journal |
|
|
pubmed:citationSubset |
AIM
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Apr
|
|
pubmed:issn |
0022-3476
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
122
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
603-6
|
|
pubmed:dateRevised |
2011-11-17
|
|
pubmed:meshHeading |
pubmed-meshheading:8463911-Abnormalities, Multiple,
pubmed-meshheading:8463911-Chromosome Aberrations,
pubmed-meshheading:8463911-Chromosomes, Human, Pair 12,
pubmed-meshheading:8463911-Female,
pubmed-meshheading:8463911-Hernia, Diaphragmatic,
pubmed-meshheading:8463911-Humans,
pubmed-meshheading:8463911-Infant, Newborn,
pubmed-meshheading:8463911-Intellectual Disability,
pubmed-meshheading:8463911-Karyotyping,
pubmed-meshheading:8463911-Male,
pubmed-meshheading:8463911-Mosaicism
|
|
pubmed:year |
1993
|
|
pubmed:articleTitle |
Diaphragmatic hernia in tetrasomy 12p mosaicism.
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|
pubmed:affiliation |
Department of Human Genetics, Children's Hospital of Philadelphia, PA 19104.
|
|
pubmed:publicationType |
Journal Article,
Case Reports
|
