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...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cambridge University Press 2019
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.
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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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