ArticleClinics (Sao Paulo, Brazil)2011
Detection of deletions at 7q11.23 in Williams-Beuren syndrome by polymorphic markers.
Article in Clinics (Sao Paulo, Brazil), 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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14 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Growth assessment in children with Williams-Beuren syndrome: a systematic review.Journal of applied genetics · 2020Pooled it
- Identifying Genetic Etiology in Patients with Intellectual Disability: An Experience in Public Health Services in Northeastern Brazil.Journal of pediatric genetics · 2024Article
- Sex-specific recombination patterns predict parent of origin for recurrent genomic disorders.BMC medical genomics · 2021Article
- Spatiotemporal 7q11.23 protein network analysis implicates the role of DNA repair pathway during human brain development.Scientific reports · 2021Article
- Pronounced maternal parent-of-origin bias for type-1 NF1 microdeletions.Human genetics · 2018Article
- Claudin Loss-of-Function Disrupts Tight Junctions and Impairs Amelogenesis.Frontiers in physiology · 2017Article
- Genome wide array-CGH and qPCR analysis for the identification of genome defects in Williams' syndrome patients in Saudi Arabia.Molecular cytogenetics · 2016Article
- Prevalence of scoliosis in Williams-Beuren syndrome patients treated at a regional reference center.Clinics (Sao Paulo, Brazil) · 2014Observational
- Prenatal phenotype of Williams-Beuren syndrome and of the reciprocal duplication syndrome.Clinical case reports · 2014Article
- Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes.American journal of human genetics · 2013Article
- Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.Journal of medical genetics · 2013Article
- Pediatrics in Clinics: highlights.Clinics (Sao Paulo, Brazil) · 2012Article
- Copy number variation in Williams-Beuren syndrome: suitable diagnostic strategy for developing countries.BMC research notes · 2012Article
- A role for transcription factor GTF2IRD2 in executive function in Williams-Beuren syndrome.PloS one · 2012Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionWilliams-Beuren syndrome (WBS; OMIM 194050) is caused by a hemizygous contiguous gene microdeletion at 7q11.23. Supravalvular aortic stenosis, mental retardation, overfriendliness, and ocular and renal abnormalities comprise typical symptoms in WBS. Although fluorescence in situ hybridization is widely used for diagnostic confirmation, microsatellite DNA markers are considered highly informative and easily manageable.
objectivesThis study aimed to test the microsatellite markers for the diagnosis of Williams-Beuren syndrome, to determine the size and parental origin of microdeletion, compare the clinical characteristics between patients with different sizes of the deletion and parental origin.
methodsWe studied 97 patients with clinical diagnosis of Williams-Beuren syndrome using five microsatellite markers: D7S1870, D7S489, D7S613, D7S2476 and D7S489_A. RESULTS AND DISCUSSION: Using five markers together, the result was informative in all patients. The most informative marker was D7S1870 (78.4%), followed by D7S613 (75.3%), D7S489 (70.1%) and D7S2476 (62.9%). The microdeletion was present in 84 (86.6%) patients and absent in 13 (13.4%) patients. Maternal deletions were found in 52.4% of patients and paternal deletions in 47.6% of patients. The observed size of deletions was 1.55 Mb in 76/ 84 patients (90.5%) and 1.84 Mb in 8/84 patients (9.5%). SVAS as well as ocular and urinary abnormalities were more frequent in the patients with a deletion. There were no clinical differences in relation to either the size or parental origin of the deletion.
conclusionUsing these five selected microsatellite markers was informative in all patients, thus can be considered an alternative method for molecular diagnosis in Williams-Beuren syndrome.
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