PROSPECTIVE PRENATAL-DIAGNOSIS OF PRADER-WILLI-SYNDROME DUE TO MATERNAL DISOMY FOR CHROMOSOME-15 FOLLOWING TRISOMIC ZYGOTE RESCUE

Authors
ROBERTS E STEVENSON E COLE T REDFORD DHA
Citation
E. Roberts et al., PROSPECTIVE PRENATAL-DIAGNOSIS OF PRADER-WILLI-SYNDROME DUE TO MATERNAL DISOMY FOR CHROMOSOME-15 FOLLOWING TRISOMIC ZYGOTE RESCUE, Prenatal diagnosis, 17(8), 1997, pp. 780-783
Citations number
9
Categorie Soggetti
Obsetric & Gynecology
Journal title
Prenatal diagnosis → ACNP
ISSN journal
01973851
Volume
17
Issue
8
Year of publication
1997
Pages
780 - 783
Database
ISI
SICI code
0197-3851(1997)17:8<780:PPOPDT>2.0.ZU;2-0
Abstract
We present a prenatal predictive diagnosis of Prader-Willi syndrome ar ising as a result of maternal heterodisomy for chromosome 15. The diag nosis arose following chorionic villus sampling which showed a mosaic trisomy 15 karyotype with a chromosomally normal follow-up amniocentes is. Molecular studies on DNA extracted from cultured amniocytes showed no evidence of a paternal allele at two widely separated loci and thi s was taken as evidence of maternal disomy predictive of Prader-Willi syndrome in the fetus. (C) 1997 by John Wiley & Sons, Ltd.