Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing

Abstract

This case highlights an important lesson for laboratory genetic testing. Geneticists and Genetic Counselors should be aware that although rare, mosaic variegated aneuploidy should be considered if mosaic aneuploidies are observed on karyotype, particularly in the context of short stature.

Keywords: CEP57; genetic testing; mosaic variegated aneuploidy syndrome; whole exome sequencing.