Open AccessClinical application of chromosomal microarray analysis for the diagnosis of Williams–Beuren syndrome in Chinese Han patients
Author(s) -
Xia Yu,
Huang Shufang,
Wu Yueheng,
Yang Yongchao,
Chen Shaoxian,
Li Ping,
Zhuang Jian
Publication year - 2019
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.517
Subject(s) - medicine , copy number variation , microarray , differential diagnosis , chromosome , phenotype , microarray analysis techniques , genetics , pediatrics , pathology , bioinformatics , gene , biology , genome , gene expression
Background Williams–Beuren syndrome (WBS; OMIM #194,050) is a rare multisystem disorder of a variable phenotypic spectrum caused by a heterozygous microdeletion in the WBS chromosome region (WBSCR) in 7q11.23. Methods We screened 38 Chinese Han patients with suspected WBS using chromosomal microarray analysis (CMA). Results Pathogenic CNVs were identified in 34 of the patients, including 29 cases with a typical 7q11.23 microdeletion, three cases with atypical copy number variations (CNVs) within the WBS chromosome region and two cases with CNVs associated with other known syndromes. All 29 WBS patients with a typical microdeletion exhibited distinctive facial dysmorphisms and developmental delay. We observed that the incidence of pulmonary abnormalities was slightly higher than that of aortic abnormalities. We also found long philtrum and prominent lips with a thick lip that may warrant suspicion of WBS in the Chinese Han patients. Conclusion CMA 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.