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Article

Detection of aneuploidies by paralogous sequence quantification

1 Dec 2004

Abstract excerpt

BACKGROUND: Chromosomal aneuploidies are a common cause of congenital disorders associated with cognitive impairment and multiple dysmorphic features. Pre-natal diagnosis of aneuploidies is most commonly performed by the karyotyping of fetal cells obtained by amniocentesis or chorionic villus sampling, but this method is labour intensive and requires about 14 days to complete. METHODS: We have developed a PCR...

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Share to Genetic Syndromes and Imprinting
Share to Genomic variations and chromosomal abnormalities
Share to Prenatal Screening and Diagnostics

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PMID: 15591276
DOI: 10.1136/jmg.2004.023184

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