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.

中文翻译：

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Beckwith-Wiedemann 和 Silver-Russell 综合征的分子和临床诊断存在差异。

Beckwith-Wiedemann 综合征 (BWS) 和 Silver-Russell 综合征 (SRS) 是两种与 11p15.5 印迹中心相反分子改变相关的印迹疾病。他们的临床诊断通过 50-70% 患者的分子检测得到证实。来自 BWS 和 SRS 不同参考中心的作者已经确定了单个患者在临床诊断方面具有意外甚至矛盾的分子发现。这些患者在临床上不符合 SRS 或 BWS 的特征表型，但说明了他们的临床异质性。因此，全面的分子检测对于准确诊断和适当管理至关重要，以避免过早的临床诊断和家属的焦虑。