Switch to
Predicate | Object |
---|---|
rdf:type | |
lifeskim:mentions | |
pubmed:issue |
8
|
pubmed:dateCreated |
1991-2-8
|
pubmed:abstractText |
The index patient is a female fetus in which prenatal diagnosis of 8p trisomy was established after amniocentesis at 16 weeks of gestation. This fetus was the unbalanced product of a maternal translocation of 5q/8p (karyotype: 46,XX,t(5;8)(q35;p11). Internal malformations include an anomalous lobature of the right lung, a little and high atrio-ventricular communication, and an anomaly in the number and shape of the aortic semilunar valves. The possible relationship between the phenotype and the chromosomal abnormality is briefly discussed.
|
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:status |
MEDLINE
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pubmed:month |
Aug
|
pubmed:issn |
0197-3851
|
pubmed:author | |
pubmed:issnType |
Print
|
pubmed:volume |
10
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
533-8
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:2267231-Amniocentesis,
pubmed-meshheading:2267231-Chromosome Aberrations,
pubmed-meshheading:2267231-Chromosome Disorders,
pubmed-meshheading:2267231-Chromosomes, Human, Pair 8,
pubmed-meshheading:2267231-Female,
pubmed-meshheading:2267231-Humans,
pubmed-meshheading:2267231-Pregnancy,
pubmed-meshheading:2267231-Trisomy
|
pubmed:year |
1990
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pubmed:articleTitle |
Prenatal diagnosis of a partial 8p trisomy.
|
pubmed:affiliation |
Servizio di Genetica Molecolare, Istituto G. Gaslini, Genova, Italy.
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pubmed:publicationType |
Journal Article,
Case Reports
|