ArticleMolecular genetics & genomic medicine2019
Clinical application of chromosomal microarray analysis for the diagnosis of Williams-Beuren syndrome in Chinese Han patients.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed.
- Noninvasive prenatal screening and diagnosis of two fetuses with Williams syndrome in a cohort of 19,607 pregnancies.Annals of medicine · 2024Article
- Sudden Cardiac Arrest During a Sedated Cardiac Magnetic Resonance Study in a Nonsyndromic Child with Evolving Supravalvar Aortic Stenosis Due to Familial ELN Mutation.Pediatric cardiology · 2023Review
- Clinical application of chromosomal microarray analysis for the diagnosis of Williams-Beuren syndrome in Chinese Han patients.Molecular genetics & genomic medicine · 2019Article
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7 authors.
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Abstract
backgroundWilliams-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.
methodsWe screened 38 Chinese Han patients with suspected WBS using chromosomal microarray analysis (CMA).
resultsPathogenic 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.
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.
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