First-trimester prenatal diagnosis of spinal muscular atrophy using microsatellite markers |
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Authors: | S Lo Cicero F Capon S Melchionda M Gennarelli G Novelli PhD B Dallapiccola |
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Institution: | 1. Department of Public Health and Cell Biology, ‘Tor Vergata’ University of Rome;2. Department of Public Health and Cell Biology, ‘Tor Vergata’ University of Rome
C.S.S. Hospital I. R. C. C. S., San Giovanni Rotondo |
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Abstract: | Twenty-five pregnancies at risk for spinal muscular atrophy I (SMA I) have been monitored by first-trimester prenatal diagnosis. Microsatellite markers were used in all cases to amplify polymorphic regions at the D5S125, D5S435, D5S39, D5S127, and D5S112 loci. All families, including 12 SMA I pedigrees with a deceased index child, were fully informative for DNA analysis. Three fetuses were predicted to be affected and 22 fetuses were predicted to be unaffected. Twenty-two newborns were unaffected by clinical examination at birth. These results support the accuracy of SMA I prenatal diagnosis based on linkage analysis. |
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Keywords: | Spinal muscular atrophy PCR analysis microsatellites |
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