Article
Characterization of the Prenatal Ultrasound Phenotype Associated With 7q11.23 Microduplication Syndrome and Williams-Beuren Syndrome.
Prenatal diagnosis - 1 Oct 2024
Wang Fengyang, Peng Huijuan, Lou Guiyu, Ren Yanxin, Liao Shixiu
Abstract excerpt
OBJECTIVE: This study aimed to characterize the intrauterine phenotype of fetuses with 7q11.23 microduplication syndrome and Williams-Beuren syndrome (WBS) to provide insight into prenatal genotype and phenotype correlations in the 7q11.23 region. METHODS: Seven fetuses with 7q11.23 microduplication syndrome and sixteen with WBS were diagnosed via array comparative genomic hybridization (array CGH) or copy number...
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