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Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes

Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes
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 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.
0016-6723
e3
Mackay, Deborah J.g.
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Bliek, Jet
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Lombardi, Maria Paola
372aa188-e6c1-4e20-9ebe-934640656bcc
Russo, Silvia
c58120ef-376c-49f9-be98-0b72bd45d525
Calzari, Luciano
9aba3eca-60d3-4aaf-8dae-d5d91a3489c5
Guzzetti, Sara
4cc07e07-b28e-4fa3-b7ae-1d70b5794a69
Izzi, Claudia
da08eccb-3ab6-4ec6-a60b-61eb46c7a467
Selicorni, Angelo
c17ff8ee-422c-4e18-9c99-60a586e3bff1
Melis, Daniela
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Temple, Karen
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Maher, Eamonn
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Brioude, Frédéric
eb192db3-3f71-40ac-bf63-c64a8d04bc1c
Netchine, Irène
8f1b8436-aa93-4722-be70-fb70351bf078
Eggermann, Thomas
f65876e2-0250-48e9-be6c-40abd9b43a6f
Mackay, Deborah J.g.
588a653e-9785-4a00-be71-4e547850ee4a
Bliek, Jet
71a7b9b1-a591-491d-832a-9b670ef05195
Lombardi, Maria Paola
372aa188-e6c1-4e20-9ebe-934640656bcc
Russo, Silvia
c58120ef-376c-49f9-be98-0b72bd45d525
Calzari, Luciano
9aba3eca-60d3-4aaf-8dae-d5d91a3489c5
Guzzetti, Sara
4cc07e07-b28e-4fa3-b7ae-1d70b5794a69
Izzi, Claudia
da08eccb-3ab6-4ec6-a60b-61eb46c7a467
Selicorni, Angelo
c17ff8ee-422c-4e18-9c99-60a586e3bff1
Melis, Daniela
54f9a954-e093-4fe5-919c-9a6f1514d64a
Temple, Karen
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Maher, Eamonn
6540cdd4-e308-4bd4-bd77-bed4677b6a4a
Brioude, Frédéric
eb192db3-3f71-40ac-bf63-c64a8d04bc1c
Netchine, Irène
8f1b8436-aa93-4722-be70-fb70351bf078
Eggermann, Thomas
f65876e2-0250-48e9-be6c-40abd9b43a6f

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 and Eggermann, Thomas (2019) Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes. Genetics Research, 101, e3. (doi:10.1017/S001667231900003X).

Record type: Article

Abstract

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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More information

Accepted/In Press date: 22 January 2019
e-pub ahead of print date: 4 March 2019

Identifiers

Local EPrints ID: 428674
URI: http://eprints.soton.ac.uk/id/eprint/428674
ISSN: 0016-6723
PURE UUID: ac89b0f7-cb7b-4e88-ad67-22319d153678
ORCID for Deborah J.g. Mackay: ORCID iD orcid.org/0000-0003-3088-4401
ORCID for Karen Temple: ORCID iD orcid.org/0000-0002-6045-1781

Catalogue record

Date deposited: 06 Mar 2019 17:30
Last modified: 26 Nov 2021 02:42

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Contributors

Author: Jet Bliek
Author: Maria Paola Lombardi
Author: Silvia Russo
Author: Luciano Calzari
Author: Sara Guzzetti
Author: Claudia Izzi
Author: Angelo Selicorni
Author: Daniela Melis
Author: Karen Temple ORCID iD
Author: Eamonn Maher
Author: Frédéric Brioude
Author: Irène Netchine
Author: Thomas Eggermann

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