|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
2
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|
pubmed:dateCreated |
1992-10-15
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|
pubmed:abstractText |
The authors report on a patient with tetrasomy 9p and 9qh due a karyotype 47,XY,+dic(9)(q12) in lymphocytes and a normal karyotype in fibroblasts. Clinical and complementary investigation revealed a malformation syndrome with many anomalies like those of trisomy 9p as well as Dandy-Walker cyst and Hirschsprung disease not previously described in tetrasomy 9p.
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|
pubmed:language |
eng
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|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:status |
MEDLINE
|
|
pubmed:issn |
0003-3995
|
|
pubmed:author |
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
35
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
79-84
|
|
pubmed:dateRevised |
2004-11-17
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|
pubmed:meshHeading |
pubmed-meshheading:1524413-Chromosome Aberrations,
pubmed-meshheading:1524413-Chromosome Disorders,
pubmed-meshheading:1524413-Chromosomes, Human, Pair 9,
pubmed-meshheading:1524413-Dandy-Walker Syndrome,
pubmed-meshheading:1524413-Hirschsprung Disease,
pubmed-meshheading:1524413-Humans,
pubmed-meshheading:1524413-Infant, Newborn,
pubmed-meshheading:1524413-Karyotyping,
pubmed-meshheading:1524413-Male
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|
pubmed:year |
1992
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|
pubmed:articleTitle |
A patient with tetrasomy 9p, Dandy-Walker cyst and Hirschsprung disease.
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|
pubmed:affiliation |
Disciplina de Genética, Escola Paulista de Medicina, São Paulo, Brazil.
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|
pubmed:publicationType |
Journal Article,
Case Reports
|
