Microarreglos cromosómicos en 236 pacientes chilenos con trastornos del neurodesarrollo y anomalías congénitas / Microarrays in 236 patients with neurodevelopmental disorders and congenital abnormalities
Rev. méd. Chile
; 145(7): 854-861, jul. 2017. tab, graf
Article
en Es
| LILACS
| ID: biblio-902558
Biblioteca responsable:
CL1.1
ABSTRACT
Background:
In 20% of neurodevelopmental disorders (NDD) and congenital abnormalities (CA) the cause would be a genomic imbalance detectable only by chromosomal microarrays (CMA).Aim:
To analyze the results of CMA performed at the INTA Laboratory of Molecular Cytogenetics, during a period of four years in patients with NDD or CA. Material andMethods:
Retrospective study that included all CMA reports of Chilean patients. Age, sex, clinical diagnosis and origin were analyzed, as well as the characteristics of the finding. The percentage of cases diagnosed by CMA was calculated considering all patients with pathogenic (PV) or probably pathogenic variants (VLP). Finally, we studied the association between patients' characteristics and a positive CMA outcome.Results:
A total of 236 reports were analyzed. The median age was 5.41 (range 2.25-9.33) years, and 59% were men. Ninety chromosomal imbalances were found, which corresponded mainly to deletions (53.3%), with a median size of 1.662 (range 0.553-6.673) Megabases. The diagnostic rate of CMA in Chilean patients from all over the country was 19.2%. There was a close relationship between the patient's sex and the detection of VLP/VP (p = 0.034).Conclusions:
Our diagnostic rate and the association between female sex and a higher percentage of diagnosed cases are concordant with other international studies. Therefore, CMA is a valid diagnostic tool in the Chilean population.Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
LILACS
Asunto principal:
Anomalías Congénitas
/
Análisis por Micromatrices
/
Trastornos del Neurodesarrollo
Tipo de estudio:
Observational_studies
/
Risk_factors_studies
Límite:
Child
/
Child, preschool
/
Female
/
Humans
/
Male
País/Región como asunto:
America do sul
/
Chile
Idioma:
Es
Revista:
Rev Med Chil
/
Rev. méd. Chile
/
Rev. méd. Chile (En línea)
/
Revista médica de Chile
Asunto de la revista:
MEDICINA
Año:
2017
Tipo del documento:
Article
País de afiliación:
Chile
Pais de publicación:
Chile