Vals Mari-Anne, Kahre Tiina, Mee Pille, Muru Kai, Kallas Eha, Žilina Olga, Tillmann Vallo, Õunap Katrin
Department of Genetics, Tartu University Hospital, Tartu, Estonia; Children's Clinic, Tartu University Hospital, Tartu, Estonia; Department of Pediatrics, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.
Department of Genetics, Tartu University Hospital, Tartu, Estonia; Department of Pediatrics, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.
Mol Syndromol. 2015 Sep;6(3):147-51. doi: 10.1159/000437061. Epub 2015 Jul 24.
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.
Silver-Russell综合征（SRS）和Beckwith-Wiedemann综合征（BWS）是两种影响生长的相反疾病。这两种综合征的常见分子病因是11p15染色体区域中基因的异常调控，其中两个印记控制区域（ICR）控制胎儿期和出生后的生长。此外，在SRS和BWS患者中还发现了许多亚微观染色体紊乱，如11p15的重复。涉及两个ICR的重复会导致SRS或BWS，这取决于异常是从哪一方父母遗传而来。据我们所知，我们描述了染色体区域11p15.5p15.4中最小的家族性纯合1.3兆碱基重复，该重复涉及两个ICR，存在于三代人中，导致SRS或BWS表型。
