PMID: 9267905Aug 1, 1997Paper

Prospective prenatal diagnosis of Prader-Willi syndrome due to maternal disomy for chromosome 15 following trisomic zygote rescue

Prenatal Diagnosis
E RobertsE V Davison


We present a prenatal predictive diagnosis of Prader-Willi syndrome arising as a result of maternal heterodisomy for chromosome 15. The diagnosis arose following chorionic villus sampling which showed a mosaic trisomy 15 karyotype with a chromosomally normal follow-up amninocentesis. Molecular studies on DNA extracted from cultured amniocytes showed no evidence of a paternal allele at two widely separated loci and this was taken as evidence of maternal disomy predictive of Prader-Willi syndrome in the fetus.


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Jan 22, 1996·American Journal of Medical Genetics·J M MilunskyA Milunsky

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