OBJECTIVE: The human genome contains several types of variations, such as copy number variations, that can generate specific clinical abnormalities. Different techniques are used to detect these changes, and obtaining an unequivocal diagnosis is important to understand the physiopathology of the diseases. The objective of this study was to assess the diagnostic capacity of multiplex ligation-dependent probe amplification and array techniques for etiologic diagnosis of syndromic patients. METHODS: We analyzed 93 patients with developmental delay and multiple congenital abnormalities using multiplex ligation-dependent probe amplifications and arrays. RESULTS: Multiplex ligation-dependent probe amplification using different kits revealed several changes in approximately 33.3% of patients. The use of arrays with different platforms showed an approximately 53.75% detection rate for at least one pathogenic change and a 46.25% detection rate for patients with benign changes. A concomitant assessment of the two techniques showed an approximately 97.8% rate of concordance, although the results were not the same in all cases. In contrast with the array results, the MLPA technique detected ∼70.6% of pathogenic changes. CONCLUSION: The obtained results corroborated data reported in the literature, but the overall detection rate was higher than the rates previously reported, due in part to the criteria used to select patients. Although arrays are the most efficient tool for diagnosis, they are not always suitable as a first-line diagnostic approach because of their high cost for large-scale use in developing countries. Thus, clinical and laboratory interactions with skilled technicians are required to target patients for the most effective and beneficial molecular diagnosis.

Fluorose dentária é uma opacidade do esmalte provocada pela ingestão de quantidades excessivas de flúor (exposição crônica) durante o período de formação dos dentes. A estimação desse problema em população exposta a fontes de flúor é necessária e deve ser feita periodicamente para monitorar os níveis e os padrões da alteração. A proposta desta pesquisa foi descrever e comparar dois estudos de prevalência para estimar a ocorrência de fluorose dentária na população do Município de Ribeirão Pires, Estado de São Paulo, Brasil, realizados em 1997 e 2000. Os métodos empregados em cada estudo foram brevemente apresentados. Os resultados foram comparados. Aspectos metodológicos e as implicações para Saúde Coletiva foram discutidos.

Dental fluorosis is an enamel opacity resulting from the ingestion of excessive amounts of fluoride (chronic exposure) during tooth formation. Estimation of this problem among populations exposed to fluoride sources is necessary and should be performed periodically to monitor changes in levels and patterns in the disorder. This research aimed to describe and compare two prevalence studies to estimate the occurrence of dental fluorosis in a population of schoolchildren in Ribeirão Pires, São Paulo State, Brazil, conducted in 1997 and 2000. The methods used in each study are described briefly and the results compared. Methodological aspects and implications for public health are discussed.

Fluorose dentária é uma opacidade do esmalte provocada pela ingestão de quantidades excessivas de flúor (exposição crônica) durante o período de formação dos dentes. A estimação desse problema em população exposta a fontes de flúor é necessária e deve ser feita periodicamente para monitorar os níveis e os padrões da alteração. A proposta desta pesquisa foi descrever e comparar dois estudos de prevalência para estimar a ocorrência de fluorose dentária na população do Município de Ribeirão Pires, Estado de São Paulo, Brasil, realizados em 1997 e 2000. Os métodos empregados em cada estudo foram brevemente apresentados. Os resultados foram comparados. Aspectos metodológicos e as implicações para Saúde Coletiva foram discutidos.

Dental fluorosis is an enamel opacity resulting from the ingestion of excessive amounts of fluoride (chronic exposure) during tooth formation. Estimation of this problem among populations exposed to fluoride sources is necessary and should be performed periodically to monitor changes in levels and patterns in the disorder. This research aimed to describe and compare two prevalence studies to estimate the occurrence of dental fluorosis in a population of schoolchildren in Ribeirão Pires, São Paulo State, Brazil, conducted in 1997 and 2000. The methods used in each study are described briefly and the results compared. Methodological aspects and implications for public health are discussed.