诊断BWS表型不一致双胞胎的挑战和缺陷

IF 2.3 3区医学 Q2 GENETICS & HEREDITY

Clinical Genetics Pub Date : 2025-07-18 DOI:10.1111/cge.70022

Iacopo Bellani, Valentina Trevisan, Germana Viscogliosi, Maria Grazia Pomponi, Pietro Chiurazzi, Alessandro Mussa, Giuseppe Zampino, Maurizio Genuardi, Chiara Leoni

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引用次数: 0

摘要

准确诊断表型不一致双胞胎的贝克威氏综合征（BWS）对于个性化肿瘤监测和管理至关重要。建议对双胞胎进行检测，即使没有表型表达，并将产前因素（如辅助生殖技术和双胞胎妊娠）纳入诊断性BWS评分系统。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Challenges and Pitfalls in Diagnosing Twins With Discordant BWS Phenotype

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Challenges and Pitfalls in Diagnosing Twins With Discordant BWS Phenotype

Accurately diagnosing Beckwith–Wiedemann syndrome (BWS) in twins with discordant phenotypes is essential for personalized oncological monitoring and management. It is advisable to test both twins, even without phenotypic expression, and incorporate prenatal factors like assisted reproduction technologies and twin pregnancies into the diagnostic BWS scoring system.

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来源期刊

Clinical Genetics 医学-遗传学

CiteScore

6.50

自引率

0.00%

发文量

175

审稿时长

3-8 weeks

期刊介绍： Clinical Genetics links research to the clinic, translating advances in our understanding of the molecular basis of genetic disease for the practising clinical geneticist. The journal publishes high quality research papers, short reports, reviews and mini-reviews that connect medical genetics research with clinical practice. Topics of particular interest are: • Linking genetic variations to disease • Genome rearrangements and disease • Epigenetics and disease • The translation of genotype to phenotype • Genetics of complex disease • Management/intervention of genetic diseases • Novel therapies for genetic diseases • Developmental biology, as it relates to clinical genetics • Social science research on the psychological and behavioural aspects of living with or being at risk of genetic disease