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Update on the Genetics and Prenatal Ultrasound Features of Williams-Beuren Syndrome
Received date: 2024-06-27
Revised date: 2024-08-18
Accepted date: 2024-09-04
Online published: 2024-10-16
A heterozygous microdeletion of chromosome 7q11.23 causes the rare neuropsychiatric developmental disorder Williams-Beuren Syndrome. The syndrome is more difficult to diagnose before birth than after, even though the syndrome often manifests prenatally as intrauterine growth restriction and cardiovascular defects on prenatal ultrasonography. The potentially poor prognosis of affected individuals highlights the need to improve prenatal diagnosis of the syndrome. This review summarizes recent advances in our understanding of the genetics of Williams-Beuren Syndrome and its manifestations on prenatal ultrasonography, which may facilitate its early detection and inform prenatal genetic counseling.
Key words： Williams syndrome; Genetics; Ultrasonography; Prenatal diagnosis
Shanqing Li, MM , Rong Hu, MM , Xijing Liu, MD , Fan Yang, MD . Update on the Genetics and Prenatal Ultrasound Features of Williams-Beuren Syndrome[J]. ADVANCED ULTRASOUND IN DIAGNOSIS AND THERAPY, 2024 , 8(3) : 79 -85 . DOI: 10.37015/AUDT.2024.240036
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