Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience

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dc.citation.issue9
dc.citation.volume72
dc.contributor.authorZanardo, Evelin Aline
dc.contributor.authorDutra, Roberta Lelis
dc.contributor.authorPiazzon, Flavia Balbo
dc.contributor.authorDias, Alexandre Torchio
dc.contributor.authorNovo-Filho, Gil Monteiro
dc.contributor.authorNascimento, Amom Mendes
dc.contributor.authorMontenegro, Marilia Moreira
dc.contributor.authorDamasceno, Jullian Gabriel
dc.contributor.authorRosa Madia, Fabricia Andreia
dc.contributor.authorMoura Machado da Costa, Thais Virginia
dc.contributor.authorMelaragno, Maria Isabel [UNIFESP]
dc.contributor.authorKim, Chong Ae
dc.contributor.authorKulikowski, Leslie Domenici
dc.coverageSao Paulo
dc.date.accessioned2020-08-04T13:40:04Z
dc.date.available2020-08-04T13:40:04Z
dc.date.issued2017
dc.description.abstractOBJECTIVE: 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 B70.6% 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.en
dc.description.affiliationUniv Sao Paulo, Lab Citogen, Dept Patol, Fac Med FMUSP, Sao Paulo, SP, Brazil
dc.description.affiliationUniv Fed Sao Paulo, Dept Morfol & Genet, Sao Paulo, SP, Brazil
dc.description.affiliationUniv Sao Paulo, Unidade Genet, Dept Pediat, Inst Crianca,Hosp Clin HCFMUSP,Fac Med, Sao Paulo, SP, Brazil
dc.description.affiliationUnifespUniv Fed Sao Paulo, Dept Morfol & Genet, Sao Paulo, SP, Brazil
dc.description.sourceWeb of Science
dc.description.sponsorshipCoordenacao de Aperfeicoamento de Pessoal de Nivel Superior (CAPES)
dc.description.sponsorshipFundacao de Amparo a Pesquisa do Estado de Sao Paulo (FAPESP)
dc.format.extent526-537
dc.identifierhttp://dx.doi.org/10.6061/clinics/2017(09)02
dc.identifier.citationClinics. Sao Paulo, v. 72, n. 9, p. 526-537, 2017.
dc.identifier.doi10.6061/clinics/2017(09)02
dc.identifier.fileS1807-59322017000900516.pdf
dc.identifier.issn1807-5932
dc.identifier.scieloS1807-59322017000900516
dc.identifier.urihttps://repositorio.unifesp.br/handle/11600/57266
dc.identifier.wosWOS:000413649800002
dc.language.isoeng
dc.publisherHospital Clinicas, Univ Sao Paulo
dc.relation.ispartofClinics
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectCytogenomic Techniquesen
dc.subjectMLPAen
dc.subjectArrayen
dc.subjectDevelopmental Delayen
dc.subjectMultiple Congenital Abnormalitiesen
dc.titleCytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experienceen
dc.typeinfo:eu-repo/semantics/article
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