Santiago J, Muszlak M, Samson C, Goulois E, Glorion A, Atale A, Ranaivoarivony V, Hebert J-C, Bouvier R, Cordier M-P
Service de pédiatrie, centre hospitalier de Mayotte, BP 04, 97600 Mamoudzou, Mayotte.
Arch Pediatr. 2008 Sep;15(9):1498-502. doi: 10.1016/j.arcped.2008.06.009. Epub 2008 Jul 31.
Wiedemann-Beckwith syndrome (WBS) is a syndrome of excessive growing with a high predisposition to developing embryologic tumours within the first years of life. This risk is evaluated between 7.5 and 10%; it varies with the mechanisms of mutations involved. These take place in two distinct domains of 11p15, which are under parental printing. Emerging techniques of cytogenetic and molecular biology now have shown correlations between genotypes and phenotypes, and can identify the 30% of WBS who are especially at risk of developing tumours. A specific follow-up, integrating the specificity of developing tumours of each 11p15 mutations involved, is now proposed to patients with WBS.
威德曼-贝克威思综合征（WBS）是一种过度生长的综合征，在生命的最初几年极易发生胚胎性肿瘤。这种风险评估在7.5%至10%之间；它因所涉及的突变机制而异。这些突变发生在11p15的两个不同区域，这两个区域处于亲本印记之下。细胞遗传学和分子生物学的新兴技术现已表明基因型与表型之间存在关联，并且能够识别出30%特别有患肿瘤风险的WBS患者。现在建议对WBS患者进行特定的随访，纳入所涉及的每个11p15突变发生肿瘤的特异性。
