Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system
| العنوان: | Implementation of chromosomal microarrays in a cohort of patients with intellectual disability at the Argentinean public health system |
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| المؤلفون: | Romina Armando, Julián Nevado, Vanesa Lotersztein, Cinthia Martínez, María Ángeles Mori, Sandra Rozental, María Palomares, Lucía D. Espeche, Rubén Martín Arenas, Pablo Lapunzina, Myriam Perez, Andrea Solari, Mabel Segovia, Liliana Dain |
| المصدر: | Molecular Biology Reports. 47:6863-6878 |
| بيانات النشر: | Springer Science and Business Media LLC, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | 0301 basic medicine, medicine.medical_specialty, Pediatrics, business.industry, Public health, General Medicine, medicine.disease, Subtelomere, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurodevelopmental disorder, 030220 oncology & carcinogenesis, Cohort, Intellectual disability, Genetics, Etiology, Medicine, Multiplex ligation-dependent probe amplification, Copy-number variation, business, Molecular Biology |
| الوصف: | 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. |
| تدمد: | 1573-4978 0301-4851 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_________::2feeac95fe13a592211483837d6ab631Test https://doi.org/10.1007/s11033-020-05743-6Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi...........2feeac95fe13a592211483837d6ab631 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15734978 03014851 |
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