Source:http://linkedlifedata.com/resource/pubmed/id/19574080
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
7-8
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| pubmed:dateCreated |
2009-7-20
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| pubmed:abstractText |
Trisomy of chromosome 13, 18, 21 and sex chromosome aneuploidies are the most common chromosomal abnormalities encountered in prenatal screening and are responsible for polymaformative syndrome associated with severe mental retardation. This high degree of morbidity justifies the prenatal diagnosis of these aneuploidies. Fetal nuchal translucency measurement and maternal serum biochemical marker assessment are the method of choice used for antenatal screening of aneuploidies. This prenatal screening leads to numerous maternal samplings followed by karyotyping which is cost-effective, time consuming, while results are generally returned between 2 and 3 weeks. Our study describes the research of common aneuploidies by molecular biology. We have used on one hand the MLPA kit (MRC Holland) based on amplification of specific DNA probes that hybridize with chromosomes 13, 18, 21, X, Y. On the other hand we have developed multiplex fluorescent PCR, amplifying microsatellite DNA sequences.
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| pubmed:language |
fre
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| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:issn |
1297-9589
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| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
37
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
611-9
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| pubmed:meshHeading |
pubmed-meshheading:19574080-Aneuploidy,
pubmed-meshheading:19574080-Chorionic Villi Sampling,
pubmed-meshheading:19574080-Chromosome Aberrations,
pubmed-meshheading:19574080-Down Syndrome,
pubmed-meshheading:19574080-Female,
pubmed-meshheading:19574080-Humans,
pubmed-meshheading:19574080-Karyotyping,
pubmed-meshheading:19574080-Maternal Age,
pubmed-meshheading:19574080-Microsatellite Repeats,
pubmed-meshheading:19574080-Nuchal Translucency Measurement,
pubmed-meshheading:19574080-Predictive Value of Tests,
pubmed-meshheading:19574080-Pregnancy,
pubmed-meshheading:19574080-Prenatal Diagnosis,
pubmed-meshheading:19574080-Reproducibility of Results,
pubmed-meshheading:19574080-Sensitivity and Specificity,
pubmed-meshheading:19574080-Time Factors,
pubmed-meshheading:19574080-Ultrasonography, Prenatal
|
| pubmed:articleTitle |
[Molecular biology usefulness for rapid diagnosis of Down's syndrome and common aneuploidies].
|
| pubmed:affiliation |
Laboratoire de génétique cellulaire et moléculaire, CHU de Poitiers, BP 577, 86021 Poitiers cedex, France.
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| pubmed:publicationType |
Journal Article,
Comparative Study,
English Abstract
|