{Reference Type}: Case Reports
{Title}: [Genetic analysis of a child with atypical Williams-Beuren syndrome presenting as supravalvular aortic stenosis].
{Author}: Wu D;Zhang M;Gao Y;Huo X;Xiao H;Zhang Q;Kang B;Wang X;Liao S;
{Journal}: Zhonghua Yi Xue Yi Chuan Xue Za Zhi
{Volume}: 37
{Issue}: 4
{Year}: Apr 2020 10
暂无{DOI}: 10.3760/cma.j.issn.1003-9406.2020.04.028
{Abstract}: <B>OBJECTIVE: </B>To explore the genetic basis for a child with supravalvular aortic stenosis.<BR><B>METHODS: </B>The child and his parents were subjected to conventional G-banding karyotyping, array comparative genomic hybridization (aCGH) and multiplex ligation-dependent probe amplification (MLPA) analysis.<BR><B>RESULTS: </B>No karyotypic abnormality was detected in the child and his parents. aCGH has identified a de novo 278 kb deletion encompassing the ELN gene in 7q11.23, which overlapped with the critical region of Williams-Beuren syndrome (WBS). MLPA has confirmed above findings.<BR><B>CONCLUSIONS: </B>The proband was diagnosed with atypical WBS. Deletion of the ELN gene may predispose to supravalvular aortic stenosis in the proband.