Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system

• Published in: Molecular biology reports Vol. 47; no. 9; pp. 6863 - 6878
• Main Authors: Espeche, Lucía Daniela, Solari, Andrea Paula, Mori, María Ángeles, Arenas, Rubén Martín, Palomares, María, Pérez, Myriam, Martínez, Cinthia, Lotersztein, Vanesa, Segovia, Mabel, Armando, Romina, Dain, Liliana Beatriz, Nevado, Julián, Lapunzina, Pablo, Rozental, Sandra
• Format: Journal Article
• Language: English
• Published: Dordrecht Springer Netherlands 01-09-2020; Springer Nature B.V
• Subjects: Animal Anatomy; Animal Biochemistry; Biomedical and Life Sciences; Copy number; Cytogenetics; Environmental factors; Epigenetics; Etiology; Genetic screening; Histology; Intellectual disabilities; Karyotypes; Life Sciences; Morphology; Neurodevelopmental disorders; Original Article; Public health; Chromosomal microarray; CNV; Intellectual disability; arrayCGH; CMA
• ISSN: 0301-4851; 1573-4978
• DOI: 10.1007/s11033-020-05743-6

Intellectual disability is a neurodevelopmental disorder in which genetic, epigenetic and environmental factors are involved. In consequence, the determination of its etiology is usually complex. Though many countries have migrated from conventional cytogenetic analysis to chromosomal microarrays as the first-tier genetic test for patients with this condition, this last technique was implemented in our country a few years ago. We report on the results of the implementation of chromosomal microarrays in a cohort of 133 patients with intellectual disability and dysmorphic features, normal karyotype and normal subtelomeric MLPA results in an Argentinean public health institution. Clinically relevant copy number variants were found in 12% of the patients and one or more copy number variants classified as variants of uncertain significance were found in 5.3% of them. Although the diagnostic yield of chromosomal microarrays is greater than conventional cytogenetics for these patients, there are financial limitations to adopt this technique as a first-tier test in our country, especially in the public health system.