Clinical application of chromosomal microarray analysis for the diagnosis of Williams –Beuren syndrome in Chinese Han patients

ConclusionCMA facilitates diagnosis in individuals with classic/nonclassic features of WBS and demonstrated that when Chinese Han patients present with a less classical phenotype, such as pulmonary abnormalities, this may raise suspicion for a WBS diagnosis and suggest a referral for a genetics evaluation for a differential diagnosis.

Source: Molecular Genetics & Genomic Medicine - December 18, 2018 Category: Genetics & Stem Cells Authors: Yu Xia, Shufang Huang, Yueheng Wu, Yongchao Yang, Shaoxian Chen, Ping Li, Jian Zhuang Tags: ORIGINAL ARTICLE Source Type: research