Your browser doesn't support javascript.
loading
Cytogenomic assessment of the diagnosis of 93 patients with developmental delay and multiple congenital abnormalities: The Brazilian experience
Zanardo, Évelin Aline; Dutra, Roberta Lelis; Piazzon, Flavia Balbo; Dias, Alexandre Torchio; Novo-Filho, Gil Monteiro; Nascimento, Amom Mendes; Montenegro, Marília Moreira; Damasceno, Jullian Gabriel; Madia, Fabrícia Andreia Rosa; da Costa, Thaís Virgínia Moura Machado; Melaragno, Maria Isabel; Kim, Chong Ae; Kulikowski, Leslie Domenici.
  • Zanardo, Évelin Aline; Universidade de São Paulo. Departamento de Patologia, Faculdade de Medicina FMUSP. Laboratorio de Citogenomica. Sao Paulo. BR
  • Dutra, Roberta Lelis; Universidade de São Paulo. Departamento de Patologia, Faculdade de Medicina FMUSP. Laboratorio de Citogenomica. Sao Paulo. BR
  • Piazzon, Flavia Balbo; Universidade de São Paulo. Departamento de Patologia, Faculdade de Medicina FMUSP. Laboratorio de Citogenomica. Sao Paulo. BR
  • Dias, Alexandre Torchio; Universidade de São Paulo. Departamento de Patologia, Faculdade de Medicina FMUSP. Laboratorio de Citogenomica. Sao Paulo. BR
  • Novo-Filho, Gil Monteiro; Universidade de São Paulo. Departamento de Patologia, Faculdade de Medicina FMUSP. Laboratorio de Citogenomica. Sao Paulo. BR
  • Nascimento, Amom Mendes; Universidade de São Paulo. Departamento de Patologia, Faculdade de Medicina FMUSP. Laboratorio de Citogenomica. Sao Paulo. BR
  • Montenegro, Marília Moreira; Universidade de São Paulo. Departamento de Patologia, Faculdade de Medicina FMUSP. Laboratorio de Citogenomica. Sao Paulo. BR
  • Damasceno, Jullian Gabriel; Universidade de São Paulo. Departamento de Patologia, Faculdade de Medicina FMUSP. Laboratorio de Citogenomica. Sao Paulo. BR
  • Madia, Fabrícia Andreia Rosa; Universidade de São Paulo. Departamento de Patologia, Faculdade de Medicina FMUSP. Laboratorio de Citogenomica. Sao Paulo. BR
  • da Costa, Thaís Virgínia Moura Machado; Universidade de São Paulo. Departamento de Patologia, Faculdade de Medicina FMUSP. Laboratorio de Citogenomica. Sao Paulo. BR
  • Melaragno, Maria Isabel; Universidade de São Paulo. Departamento de Patologia, Faculdade de Medicina FMUSP. Laboratorio de Citogenomica. Sao Paulo. BR
  • Kim, Chong Ae; Universidade de São Paulo. Departamento de Patologia, Faculdade de Medicina FMUSP. Laboratorio de Citogenomica. Sao Paulo. BR
  • Kulikowski, Leslie Domenici; Universidade de São Paulo. Departamento de Patologia, Faculdade de Medicina FMUSP. Laboratorio de Citogenomica. Sao Paulo. BR
Clinics ; 72(9): 526-537, Sept. 2017. tab, graf
Article in English | LILACS | ID: biblio-890734
ABSTRACT

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.
Subject(s)


Full text: Available Index: LILACS (Americas) Main subject: Abnormalities, Multiple / Developmental Disabilities Type of study: Diagnostic study / Evaluation studies Limits: Child / Humans Country/Region as subject: South America / Brazil Language: English Journal: Clinics Journal subject: Medicine Year: 2017 Type: Article Affiliation country: Brazil Institution/Affiliation country: Universidade de São Paulo/BR

Similar

MEDLINE

...
LILACS

LIS


Full text: Available Index: LILACS (Americas) Main subject: Abnormalities, Multiple / Developmental Disabilities Type of study: Diagnostic study / Evaluation studies Limits: Child / Humans Country/Region as subject: South America / Brazil Language: English Journal: Clinics Journal subject: Medicine Year: 2017 Type: Article Affiliation country: Brazil Institution/Affiliation country: Universidade de São Paulo/BR