Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes
Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are two imprinting disorders associated with opposite molecular alterations in the 11p15.5 imprinting centres. Their clinical diagnosis is confirmed by molecular testing in 50–70% of patients. The authors from different reference ce...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cambridge University Press
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7044970/ https://www.ncbi.nlm.nih.gov/pubmed/30829192 http://dx.doi.org/10.1017/S001667231900003X |
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author | Mackay, Deborah J.G. Bliek, Jet Lombardi, Maria Paola Russo, Silvia Calzari, Luciano Guzzetti, Sara Izzi, Claudia Selicorni, Angelo Melis, Daniela Temple, Karen Maher, Eamonn Brioude, Frédéric Netchine, Irène Eggermann, Thomas |
author_facet | Mackay, Deborah J.G. Bliek, Jet Lombardi, Maria Paola Russo, Silvia Calzari, Luciano Guzzetti, Sara Izzi, Claudia Selicorni, Angelo Melis, Daniela Temple, Karen Maher, Eamonn Brioude, Frédéric Netchine, Irène Eggermann, Thomas |
author_sort | Mackay, Deborah J.G. |
collection | PubMed |
description | Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are two imprinting disorders associated with opposite molecular alterations in the 11p15.5 imprinting centres. Their clinical diagnosis is confirmed by molecular testing in 50–70% of patients. The authors from different reference centres for BWS and SRS have identified single patients with unexpected and even contradictory molecular findings in respect to the clinical diagnosis. These patients clinically do not fit the characteristic phenotypes of SRS or BWS, but illustrate their clinical heterogeneity. Thus, comprehensive molecular testing is essential for accurate diagnosis and appropriate management, to avoid premature clinical diagnosis and anxiety for the families. |
format | Online Article Text |
id | pubmed-7044970 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Cambridge University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-70449702020-03-09 Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes Mackay, Deborah J.G. Bliek, Jet Lombardi, Maria Paola Russo, Silvia Calzari, Luciano Guzzetti, Sara Izzi, Claudia Selicorni, Angelo Melis, Daniela Temple, Karen Maher, Eamonn Brioude, Frédéric Netchine, Irène Eggermann, Thomas Genet Res (Camb) Short Paper Beckwith-Wiedemann syndrome (BWS) and Silver-Russell syndrome (SRS) are two imprinting disorders associated with opposite molecular alterations in the 11p15.5 imprinting centres. Their clinical diagnosis is confirmed by molecular testing in 50–70% of patients. The authors from different reference centres for BWS and SRS have identified single patients with unexpected and even contradictory molecular findings in respect to the clinical diagnosis. These patients clinically do not fit the characteristic phenotypes of SRS or BWS, but illustrate their clinical heterogeneity. Thus, comprehensive molecular testing is essential for accurate diagnosis and appropriate management, to avoid premature clinical diagnosis and anxiety for the families. Cambridge University Press 2019-03-04 /pmc/articles/PMC7044970/ /pubmed/30829192 http://dx.doi.org/10.1017/S001667231900003X Text en © The Author(s) 2019 http://creativecommons.org/licenses/by/4.0/ This is an Open Access article, distributed under the terms of the Creative Commons Attribution licence (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted re-use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Short Paper Mackay, Deborah J.G. Bliek, Jet Lombardi, Maria Paola Russo, Silvia Calzari, Luciano Guzzetti, Sara Izzi, Claudia Selicorni, Angelo Melis, Daniela Temple, Karen Maher, Eamonn Brioude, Frédéric Netchine, Irène Eggermann, Thomas Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes |
title | Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes |
title_full | Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes |
title_fullStr | Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes |
title_full_unstemmed | Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes |
title_short | Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes |
title_sort | discrepant molecular and clinical diagnoses in beckwith-wiedemann and silver-russell syndromes |
topic | Short Paper |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7044970/ https://www.ncbi.nlm.nih.gov/pubmed/30829192 http://dx.doi.org/10.1017/S001667231900003X |
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