Open AccessFamilial 1.3-Mb 11p15.5p15.4 Duplication in Three Generations Causing Silver-Russell and Beckwith-Wiedemann Syndromes
Author(s) -
Mari-Anne Vals,
Tiina Kahre,
Pille Mee,
Kai Muru,
Eha Kallas,
Olga Žilina,
Vallo Tillmann,
Katrin Õunap
Publication year - 2015
Publication title -
molecular syndromology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.609
H-Index - 36
eISSN - 1661-8777
pISSN - 1661-8769
DOI - 10.1159/000437061
Subject(s) - beckwith–wiedemann syndrome , gene duplication , imprinting (psychology) , phenotype , genetics , genomic imprinting , biology , gene , bioinformatics , medicine , gene expression , dna methylation
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.