Please use this identifier to cite or link to this item: http://sgc.anlis.gob.ar/handle/123456789/1761
Title: Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system
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 
Nevado, Julián 
Lapunzina, Pablo 
Rozental, Sandra 
Keywords: Microarray Cromosómico;Discapacidad Intelectual;Análisis Citogenético
Issue Date: Sep-2020
Journal: Molecular biology reports 
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.
Description: 
Fil: Espeche, Lucía Daniela. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.

Fil: Solari, Andrea Paula. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.

Fil: Mori, María Ángeles. Universidad Autónoma de Madrid. Instituto de Investigación Hospital Universitario La Paz, Instituto de Genética Médica y MolecUlar (INGEMM); Madrid, España.

Fil: Arenas, Rubén Martín. Universidad Autónoma de Madrid. Instituto de Investigación Hospital Universitario La Paz, Instituto de Genética Médica y MolecUlar (INGEMM); Madrid, España.

Fil: Palomares, María. Universidad Autónoma de Madrid. Instituto de Investigación Hospital Universitario La Paz, Instituto de Genética Médica y MolecUlar (INGEMM); Madrid, España.

Fil: Pérez, Myriam. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.

Fil: Martínez, Cinthia. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.

Fil: Lotersztein, Vanesa. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.

Fil: Segovia, Mabel. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.

Fil: Armando, Romina. Hospital de niños "Dr. Ricardo Gutierrez". Servicio de Genética; Buenos Aires, Argentina.

Fil: Dain, Liliana Beatriz. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.

Fil: Nevado, Julián. Universidad Autónoma de Madrid. Instituto de Investigación Hospital Universitario La Paz, Instituto de Genética Médica y MolecUlar (INGEMM); Madrid, España.

Fil: Lapunzina, Pablo. Universidad Autónoma de Madrid. Instituto de Investigación Hospital Universitario La Paz, Instituto de Genética Médica y MolecUlar (INGEMM); Madrid, España.

Fil: Rozental, Sandra. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
URI: http://sgc.anlis.gob.ar/handle/123456789/1761
ISSN: 1573-4978
DOI: 10.1007/s11033-020-05743-6
Rights: Closed Access
Appears in Collections:Publicaciones CeNaGeM

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