Beckwith-Wiedemann syndrome (BWS) is a growth disorder characterized by macrosomia, macroglossia, visceromegaly, embryonal tumors (e.g., Wilms tumor, hepatoblastoma, neuroblastoma, and rhabdomyosarcoma), omphalocele, neonatal hypoglycemia, ear creases/pits, adrenocortical cytomegaly, and renal ...
The different molecular causes of Beckwith-Wiedemann syndrome (BWS) have varying tumor and health risks. Due to the stratification of risk, it is important for patients with BWS to be tested for genetic and epigenetic alterations on chromosome 11 to appropriately assess health concerns. BWS is a...
The etiology of Beckwith-Wiedemann syndrome is complex. About 80 to 90% of patients have a known chromosome 11p15.5 anomaly affecting cell cycle progression and somatic growth control. The process starts with genetic imprinting, where only one gene copy is expressed, depending on the sex of the ...
目的探讨新生儿Beckwith-Wiedemann综合征(Beckwith-Wiedemann syndrome,BWS)的临床表现和分子诊断经验。 方法回顾性分析复旦大学附属儿科医院新生儿科2016年1月至2020年12月收治的新生儿期诊断BWS患儿的临床资料,包括临床特征、分子诊断和是否合并其他先天疾病等。 结果共纳入16例BWS新生儿,男9例,女7例,胎龄34~39周,出生...
Molecular Diagnosis and Analysis of A Fetus with Chimeric Beckwith-Wiedemann Syndrome 在线阅读 下载PDF 引用 收藏 分享 摘要 报告1例产前超声提示左肾囊肿、羊水偏多的孕妇行产前诊断,经咨询后要求对胎儿进行遗传学检测,以明确临床诊断。采用染色体微阵列分析(chromosomal microarray analysis,CMA)和全外显子组测序...
目的提高对Beckwith-Wiedemann综合征(Beckwith-Wiedemann syndrome,BWS)的临床表现和基因特征的认识,探讨辅助生殖技术与BWS的相关性以及BWS患儿的管理措施。 方法总结分析1例我院确诊的BWS患儿的病史、临床表现、基因检测结果和随访情况,并复习相关文献。 结果患儿,男,3月龄,因"频发呼吸暂停1月余"入院。有典型的巨舌、...
8 ⅐ No. 10 Molecular diagnosis of Beckwith-Wiedemann Syndrome using quantitative methylation-sensitive polymerase chain reaction Bradford Coffee, PhD1, Kasinathan Muralidharan, PhD1, William E. Highsmith Jr., PhD2, Pablo Lapunzina, MD3, and Stephen T. Warren, PhD1 Purpose: Beckwith-Wiedemann...
目的总结Beckwith-Wiedemann综合征(Beckwith-Wiedemann syndrome,BWS)的产前超声特征。 方法回顾性分析2015年1月至2022年12月在重庆医科大学附属妇女儿童医院诊断的6例BWS病例的产前超声特征、出生或引产后情况及基因检测结果。采用描述性统计分析。 结果6例胎儿产前均有宫内过度生长,超声测值均大于同龄胎儿。产前超声特征...
Wiedemann-Beckwith syndrome (WBS) has attracted a great deal of attention because of its genetic complexity. Individuals with WBS can be identified objectively by anthropometric analysis. Craniofacial anthropometry in conjunction with multivariate statistical analysis can be used to define patterns of variab...
Beckwith-Wiedemann syndrome (BWS) was first described in 1963 and 1964 by Beckwith,1,2an American pediatric pathologist, and Wiedemann,3a German geneticist. Since the first descriptions, more than 500 cases have been reported.4Prenatal diagnosis of BWS was first reported in 1980.5With the increased...