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

Deborah J.G. Mackay; Jet Bliek; Maria Paola Lombardi; Silvia Russo; Luciano Calzari; Sara Guzzetti; Claudia Izzi; Angelo Selicorni; Daniela Melis; Karen Temple; Eamonn Maher; Frédéric Brioude; Irène Netchine; Thomas Eggermann

doi:10.1017/S001667231900003X

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

Deborah J.G. Mackay, Jet Bliek, Maria Paola Lombardi, Silvia Russo, Luciano Calzari, Sara Guzzetti, Claudia Izzi, Angelo Selicorni, Daniela Melis, Karen Temple, Eamonn Maher, Frédéric Brioude, Irène Netchine, Thomas Eggermann^*

^*Corresponding author for this work

Aston Medical School

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Article number	e3
Journal	Genetics Research
Volume	101
Issue number	2019
DOIs	https://doi.org/10.1017/S001667231900003X
Publication status	Published - 4 Mar 2019

Keywords

Beckwith-Wiedemann syndrome
molecular testing
Silver-Russell syndrome
unexpected results

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10.1017/S001667231900003XLicence: CC BY 4.0

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Mackay, D. J. G., Bliek, J., Lombardi, M. P., Russo, S., Calzari, L., Guzzetti, S., Izzi, C., Selicorni, A., Melis, D., Temple, K., Maher, E., Brioude, F., Netchine, I., & Eggermann, T. (2019). Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes. Genetics Research, 101(2019), Article e3. https://doi.org/10.1017/S001667231900003X

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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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AU - Mackay, Deborah J.G.

AU - Bliek, Jet

AU - Lombardi, Maria Paola

AU - Russo, Silvia

AU - Calzari, Luciano

AU - Guzzetti, Sara

AU - Izzi, Claudia

AU - Selicorni, Angelo

AU - Melis, Daniela

AU - Temple, Karen

AU - Maher, Eamonn

AU - Brioude, Frédéric

AU - Netchine, Irène

AU - Eggermann, Thomas

PY - 2019/3/4

Y1 - 2019/3/4

N2 - 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.

AB - 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.

KW - Beckwith-Wiedemann syndrome

KW - molecular testing

KW - Silver-Russell syndrome

KW - unexpected results

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JO - Genetics Research

JF - Genetics Research

IS - 2019

M1 - e3

ER -

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

Abstract

Keywords

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