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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Veröffentlicht in:Genetics Research 2019-03, Vol.101 (e3), p.e3-e3, Article e3
Hauptverfasser: 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
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container_issue e3
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container_title Genetics Research
container_volume 101
creator 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
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.
doi_str_mv 10.1017/S001667231900003X
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subjects Beckwith-Wiedemann Syndrome - diagnosis
Beckwith-Wiedemann Syndrome - genetics
Chromosomes, Human, Pair 11 - genetics
DNA Methylation
Genetic Predisposition to Disease - genetics
Genetic Testing
Genetics
Human genetics
Humans
Life Sciences
Phenotype
Short Paper
Silver-Russell Syndrome - diagnosis
Silver-Russell Syndrome - genetics
title Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes
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