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Updated: Feb 6, 2026

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Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy
Published on: August 25, 2019
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Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing
Diana S Brightman1, Sehar Ejaz2, Andrew Dauber3
1Genetic Counseling Program Division of Human Genetics Cincinnati Children's Hospital Medical Center Cincinnati OH USA.
Clinical Case Reports
|August 28, 2018
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.
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