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

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.

Detalles Bibliográficos
Autores principales: Brightman, Diana S., Ejaz, Sehar, Dauber, Andrew
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099013/
https://www.ncbi.nlm.nih.gov/pubmed/30147898
http://dx.doi.org/10.1002/ccr3.1655
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author Brightman, Diana S.
Ejaz, Sehar
Dauber, Andrew
author_facet Brightman, Diana S.
Ejaz, Sehar
Dauber, Andrew
author_sort Brightman, Diana S.
collection PubMed
description 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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spelling pubmed-60990132018-08-24 Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing Brightman, Diana S. Ejaz, Sehar Dauber, Andrew Clin Case Rep Case Reports 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. John Wiley and Sons Inc. 2018-06-21 /pmc/articles/PMC6099013/ /pubmed/30147898 http://dx.doi.org/10.1002/ccr3.1655 Text en © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Brightman, Diana S.
Ejaz, Sehar
Dauber, Andrew
Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing
title Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing
title_full Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing
title_fullStr Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing
title_full_unstemmed Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing
title_short Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing
title_sort mosaic variegated aneuploidy syndrome caused by a cep57 mutation diagnosed by whole exome sequencing
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6099013/
https://www.ncbi.nlm.nih.gov/pubmed/30147898
http://dx.doi.org/10.1002/ccr3.1655
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AT dauberandrew mosaicvariegatedaneuploidysyndromecausedbyacep57mutationdiagnosedbywholeexomesequencing

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