A near false-negative finding of mosaic trisomy 21—a cautionary tale

✍ Scribed by G. C. Beverstock; Kerstin Hansson; Apollonia T. J. M. Helderman-Van Den Enden; Annette Bröcker-Vriends; F. Klumper; Margot Bartelings; Willemijn Dobbe-Van Meerendonk; J. V. Roosmalen; P. H. Kolkman; H. H. H. Kanhai

• Publisher: John Wiley and Sons
• Year: 1998
• Tongue: English
• Weight: 149 KB
• Volume: 18
• Category: Article
• ISSN: 0197-3851
• DOI: 10.1002/(sici)1097-0223(199807)18:7<742::aid-pd337>3.0.co;2-r

✦ Synopsis

We report the finding of a mosaic trisomy 21 restricted to the long-term culture of chorionic villi and to one amniotic fluid culture which, if interpreted according to the standard rules for the authentication of mosaicism, would have resulted in a false-negative result. The definitive diagnosis of mosaic Down syndrome was eventually confirmed by cordocentesis and by post-abortion fibroblast cultures. 1998 John Wiley & Sons, Ltd.