Prospective Prenatal Diagnosis of Prader–Willi Syndrome due to Maternal Disomy for Chromosome 15 following Trisomic Zygote Rescue

✍ Scribed by Eileen Roberts; K. Stevenson; T. Cole; D. H. A. Redford; E. V. Davison

• Publisher: John Wiley and Sons
• Year: 1997
• Tongue: English
• Weight: 54 KB
• Volume: 17
• Category: Article
• ISSN: 0197-3851
• DOI: 10.1002/(sici)1097-0223(199708)17:8<780::aid-pd133>3.0.co;2-z

✦ Synopsis

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 amniocentesis. 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. 1997 by John Wiley & Sons, Ltd.