Familial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes

Molecular Syndromology

Olga Žilina¹  Eha Kallas¹  Tiina Kahre¹  Mari-Anne Vals¹  Vallo Tillmann¹  Pille Mee¹  Kai Muru¹  Katrin Õunap¹ 

[1] aDepartment of Genetics, Tartu University Hospital, Tartu, Estonia

关键词: 11p15 duplication;    11p15 imprinting disorders;    Beckwith-Wiedemann syndrome;    Imprinting control region 1;    Imprinting control region 2;    Silver-Russell syndrome;   

DOI  :  10.1159/000437061

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

Silver-Russell syndrome (SRS) and Beckwith-Wiedemann syndrome (BWS) are 2 opposite growth-affecting disorders. The common molecular cause for both syndromes is an abnormal regulation of genes in chromosomal region 11p15, where 2 imprinting control regions (ICR) control fetal and postnatal growth. Also, many submicroscopic chromosomal disturbances like duplications in 11p15 have been described among SRS and BWS patients. Duplications involving both ICRs cause SRS or BWS, depending on which parent the aberration is inherited from. We describe to our knowledge the smallest familial pure 1.3-Mb duplication in chromosomal region 11p15.5p15.4 that involves both ICRs and is present in 3 generations causing an SRS or BWS phenotype.

【 授权许可】

Unknown