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Identification of chromosomal aberrations in a Costa Rican children population with idiopathicintellectual disability

The prevalence of intellectual disability (ID) in the global population is 3%. One of the most frequent cause of ID are chromosome aberrations, which are easily detected by a karyotype. However, many of these maygoundetected during a conventional cytogenetic analysis because of their length.These sm…

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Detalles Bibliográficos
Autores:

Abarca Ramírez, Melissa
,

Morales Montero, Fernando
,

Vindas Smith, Rebeca
,

Ortiz Morales, Fernando
,

Castro Volio, Isabel
Tipo de recurso: artículo
Estado: Versión publicada
Fecha de publicación: 2021
País: Costa Rica
Institución: Universidad de Costa Rica
Repositorio: Portal de Revistas UCR
Idioma: español
OAI Identifier: oai:portal.ucr.ac.cr:article/48088
Acceso en línea: https://revistas.ucr.ac.cr/index.php/psm/article/view/48088
Access Level: acceso abierto
Palabra clave: Subtelomeres
MLPA
Molecular cytogenetics
Marker chromosome
Subtelòmeros
Citogenètica molecular
Cromosoma marcado

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