Abstract

POSADA GUIRAN, Stephania; OSORIO M, Victoria Andrea; GARZON GUERRON, Lizeth Gabriela  and  RAMIREZ-CHEYNE, Julián. Comparative genomic hybridization: its interpretation and use as a diagnostic tool in nonspecific mental retardation and microdeletion/microduplication syndromes. Medicas UIS [online]. 2016, vol.29, n.2, pp.137-144. ISSN 0121-0319.  https://doi.org/10.18273/revmed.v29n2-2016011.

In Colombia the banding karyotype is still the initial test used in the study of patients with mental retardation or with multiple congenital anomalies. However, molecular techniques, particularly comparative genomic hybridization with microarray have identified a growing number of microdeletion or microduplication syndromes in these patients, so that globally this is the technology of choice nowaday for evaluating copy number alterations. This literature review is aimed at providing to medical personnel the latest information regarding the interpretation and role of comparative genomic hybridization as a diagnostic tool in nonspecific mental retardation, microdeletion/ microduplication syndromes and prenatal chromosomal analysis. MÉD.UIS. 2016;29(2):137-44.

Keywords : Comparative Genomic Hybridization; Intellectual Disability; Chromosome Deletion; Chromosome Duplication; Prenatal Diagnosis.

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