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.

SUBMITTER: Brightman DS 

PROVIDER: S-EPMC6099013 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature