Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public
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ORIGINAL ARTICLE
Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system Lucía Daniela Espeche1 · Andrea Paula Solari1 · María Ángeles Mori2,3,4 · Rubén Martín Arenas2,3,4 · María Palomares2,3,4 · Myriam Pérez1 · Cinthia Martínez1 · Vanesa Lotersztein1 · Mabel Segovia1 · Romina Armando5 · Liliana Beatriz Dain1 · Julián Nevado2,3,4 · Pablo Lapunzina2,3,4 · Sandra Rozental1 Received: 3 February 2020 / Accepted: 28 August 2020 © Springer Nature B.V. 2020
Abstract 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. Keywords CMA · Chromosomal microarray · arrayCGH · Intellectual disability · CNV
Introduction Intellectual disability (ID) is a neurodevelopmental disorder characterized by significant impairment in cognitive functions and in one or more adaptive behaviors with onset before 18 years of age. There are genetic, epigenetic and environmental factors that can affect the development and functioning of the nervous system. In consequence, the * Sandra Rozental [email protected] 1
Centro Nacional de Genética Médica “Dr. Eduardo Castilla”‑ ANLIS “Dr. Carlos G. Malbrán”, Ministerio de Salud, Buenos Aires, Argentina
2
Instituto de Genética Médica y Molecular (INGEMM), IdiPAZ, Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, Spain
3
CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), ISCIII, Madrid, Spain
4
ITHACA European Reference Network, Madrid, Spain
5
Servicio de Genética, Hospital de Niños “Dr. Ricardo Gutiérrez”, Buenos Aires, Argentina
determination of the ID etiology is usually complex and requires a multidisciplinary approach. The prevalence of ID varies depending on the criteria used in the diagnosis as well as on the population’s socioeconomic level. In developed countries, the prevalence is thought to be between 2 and 3% but it is higher in countries of lower socioeconomic status [1].
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