Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience
Autor: | J. G. Damasceno, Roberta Lelis Dutra, Marília M. Montenegro, Leslie Domenici Kulikowski, Thaís Virgínia Moura Machado Costa, Flavia Balbo Piazzon, Maria Isabel Melaragno, Chong Ae Kim, Evelin Aline Zanardo, Gil M. Novo-Filho, Alexandre T. Dias, F. A. R. Madia, Amom M. Nascimento |
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Rok vydání: | 2017 |
Předmět: |
0301 basic medicine
medicine.medical_specialty DNA Copy Number Variations Developmental Disabilities Concordance Bioinformatics Cytogenomic Techniques 03 medical and health sciences Reference Values Multiple Congenital Abnormalities Multiplex polymerase chain reaction medicine Humans Abnormalities Multiple Multiplex Multiplex ligation-dependent probe amplification Copy-number variation Child Reference standards Oligonucleotide Array Sequence Analysis Developmental Delay lcsh:R5-920 business.industry Array Reproducibility of Results General Medicine Reference Standards Clinical Science MLPA 030104 developmental biology Reference values Radiology Detection rate lcsh:Medicine (General) business Multiplex Polymerase Chain Reaction Brazil |
Zdroj: | Clinics, Vol 72, Iss 9, Pp 526-537 Clinics Clinics, Volume: 72, Issue: 9, Pages: 526-537, Published: SEP 2017 Clinics; v. 72 n. 9 (2017); 526-537 Clinics; Vol. 72 Núm. 9 (2017); 526-537 Clinics; Vol. 72 No. 9 (2017); 526-537 Universidade de São Paulo (USP) instacron:USP |
ISSN: | 1807-5932 1980-5322 |
Popis: | 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. |
Databáze: | OpenAIRE |
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