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

Key Clinical Message 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 shor...

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Published in:Clinical case reports 2018-08, Vol.6 (8), p.1531-1534
Main Authors: Brightman, Diana S., Ejaz, Sehar, Dauber, Andrew
Format: Article
Language:English
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Case Report
Case Reports
CEP57
Genetic counseling
genetic testing
mosaic variegated aneuploidy syndrome
whole exome sequencing
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description Key Clinical Message 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. 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.
doi_str_mv 10.1002/ccr3.1655
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subjects Case Report
Case Reports
CEP57
Genetic counseling
genetic testing
mosaic variegated aneuploidy syndrome
whole exome sequencing
title Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing
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