Beckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature,Molecular Genetics & Genomic Medicine

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Beckwith–Wiedemann syndrome: Clinical, histopathological and molecular study of two Tunisian patients and review of literature
Molecular Genetics & Genomic Medicine ( IF 2 ) Pub Date : 2021-09-12 , DOI: 10.1002/mgg3.1796
Hela Sassi _{1,

2} , Yasmina Elaribi _{1,

2} , Houweyda Jilani _{1,

2} , Imen Rejeb ₁ , Syrine Hizem _{1,

2} , Molka Sebai _{1,

2} , Nadia Kasdallah _{2,

3} , Habib Bouthour _{2,

4} , Samia Hannachi _{2,

5} , Jasmin Beygo ₆ , Ali Saad _{7,

8} , Karin Buiting ₆ , Dorra H'mida Ben-Brahim _{7,

8} , Lamia BenJemaa _{1,

2}

Affiliation

Beckwith–Wiedemann syndrome (BWS) is a rare overgrowth syndrome characterized by congenital malformations and predisposition to embryonic tumors. Loss of methylation of imprinting center 2 (IC2) is the most frequent alteration and rarely associated with tumors compared to paternal uniparental disomy of chromosome 11 (UPD(11)pat) and gain of methylation of imprinting center 1.

中文翻译：

Beckwith-Wiedemann 综合征：两名突尼斯患者的临床、组织病理学和分子研究以及文献回顾

Beckwith-Wiedemann 综合征 (BWS) 是一种罕见的过度生长综合征，其特征是先天性畸形和胚胎肿瘤易感性。与 11 号染色体的父系单亲二体性 (UPD(11)pat) 和印记中心 1 的甲基化增加相比，印记中心 2 (IC2) 的甲基化缺失是最常见的改变，并且很少与肿瘤相关。

更新日期：2021-11-10

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