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

dc.creatorEspeche, Lucía Daniela
dc.creatorSolari, Andrea Paula
dc.creatorMori, María Ángeles
dc.creatorArenas, Rubén Martín
dc.creatorPalomares, María
dc.creatorPérez, Myriam
dc.creatorMartínez, Cinthia
dc.creatorLotersztein, Vanesa
dc.creatorSegovia, Mabel
dc.creatorArmando, Romina
dc.creatorDain, Liliana
dc.creatorNevado, Julián
dc.creatorLapunzina, Pablo
dc.creatorRozental, Sandra
dc.date2020-11-27T13:29:55Z
dc.date2020-11-27T13:29:55Z
dc.date2020-09
dc.date.accessioned2023-08-29T20:07:19Z
dc.date.available2023-08-29T20:07:19Z
dc.identifier1573-4978
dc.identifierhttp://sgc.anlis.gob.ar/handle/123456789/1761
dc.identifier10.1007/s11033-020-05743-6
dc.identifier.urihttps://repositorioslatinoamericanos.uchile.cl/handle/2250/8519605
dc.descriptionFil: Espeche, Lucía Daniela. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
dc.descriptionFil: Solari, Andrea Paula. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
dc.descriptionFil: Mori, María Ángeles. Universidad Autónoma de Madrid. Instituto de Investigación Hospital Universitario La Paz, Instituto de Genética Médica y MolecUlar (INGEMM); Madrid, España.
dc.descriptionFil: Arenas, Rubén Martín. Universidad Autónoma de Madrid. Instituto de Investigación Hospital Universitario La Paz, Instituto de Genética Médica y MolecUlar (INGEMM); Madrid, España.
dc.descriptionFil: Palomares, María. Universidad Autónoma de Madrid. Instituto de Investigación Hospital Universitario La Paz, Instituto de Genética Médica y MolecUlar (INGEMM); Madrid, España.
dc.descriptionFil: Pérez, Myriam. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
dc.descriptionFil: Martínez, Cinthia. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
dc.descriptionFil: Lotersztein, Vanesa. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
dc.descriptionFil: Segovia, Mabel. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
dc.descriptionFil: Armando, Romina. Hospital de niños "Dr. Ricardo Gutierrez". Servicio de Genética; Buenos Aires, Argentina.
dc.descriptionFil: Dain, Liliana Beatriz. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
dc.descriptionFil: Nevado, Julián. Universidad Autónoma de Madrid. Instituto de Investigación Hospital Universitario La Paz, Instituto de Genética Médica y MolecUlar (INGEMM); Madrid, España.
dc.descriptionFil: Lapunzina, Pablo. Universidad Autónoma de Madrid. Instituto de Investigación Hospital Universitario La Paz, Instituto de Genética Médica y MolecUlar (INGEMM); Madrid, España.
dc.descriptionFil: Rozental, Sandra. ANLIS Dr.C.G.Malbrán. Centro Nacional de Genética Médica; Argentina.
dc.descriptionIntellectual 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.
dc.languageen
dc.relationMolecular biology reports
dc.rightsnone
dc.subjectMicroarray Cromosómico
dc.subjectDiscapacidad Intelectual
dc.subjectAnálisis Citogenético
dc.titleImplementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system
dc.typeArtículo


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