Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing

Noonan syndrome is a genetically heterogeneous condition primarily due to missense mutations in PTPN11. Prenatal diagnosis is typically made in a fetus with increased nuchal translucency and normal karyotype. We demonstrate the ability of whole exome sequencing to make prenatal diagnoses that would...

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Autores principales: Coromilas, Alexandra, Wynn, Julia, Haverfield, Eden, Chung, Wendy K
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BlackWell Publishing Ltd 2015
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4405308/
https://www.ncbi.nlm.nih.gov/pubmed/25914815
http://dx.doi.org/10.1002/ccr3.205
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author Coromilas, Alexandra
Wynn, Julia
Haverfield, Eden
Chung, Wendy K
author_facet Coromilas, Alexandra
Wynn, Julia
Haverfield, Eden
Chung, Wendy K
author_sort Coromilas, Alexandra
collection PubMed
description Noonan syndrome is a genetically heterogeneous condition primarily due to missense mutations in PTPN11. Prenatal diagnosis is typically made in a fetus with increased nuchal translucency and normal karyotype. We demonstrate the ability of whole exome sequencing to make prenatal diagnoses that would not have been made from phenotype alone.
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spelling pubmed-44053082015-04-24 Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing Coromilas, Alexandra Wynn, Julia Haverfield, Eden Chung, Wendy K Clin Case Rep Case Reports Noonan syndrome is a genetically heterogeneous condition primarily due to missense mutations in PTPN11. Prenatal diagnosis is typically made in a fetus with increased nuchal translucency and normal karyotype. We demonstrate the ability of whole exome sequencing to make prenatal diagnoses that would not have been made from phenotype alone. BlackWell Publishing Ltd 2015-04 2015-02-02 /pmc/articles/PMC4405308/ /pubmed/25914815 http://dx.doi.org/10.1002/ccr3.205 Text en © 2015 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Coromilas, Alexandra
Wynn, Julia
Haverfield, Eden
Chung, Wendy K
Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing
title Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing
title_full Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing
title_fullStr Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing
title_full_unstemmed Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing
title_short Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing
title_sort nonspecific phenotype of noonan syndrome diagnosed by whole exome sequencing
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4405308/
https://www.ncbi.nlm.nih.gov/pubmed/25914815
http://dx.doi.org/10.1002/ccr3.205
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AT wynnjulia nonspecificphenotypeofnoonansyndromediagnosedbywholeexomesequencing
AT haverfieldeden nonspecificphenotypeofnoonansyndromediagnosedbywholeexomesequencing
AT chungwendyk nonspecificphenotypeofnoonansyndromediagnosedbywholeexomesequencing

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