Chromosomal Microarray Analysis (CMA) a Clinical Diagnostic Tool in the Prenatal and Postnatal Settings.
Pediatr Endocrinol Rev
; 13(1): 448-54, 2015 Sep.
Article
en En
| MEDLINE
| ID: mdl-26540760
ABSTRACT
Chromosomal microarray analysis (CMA) is a technology used for the detection of clinically-significant microdeietions or duplications, with a high sensitivity for submicroscopic aberrations. It is able to detect changes as small as 5-10Kb in size - a resolution up to 1000 times higher than that of conventional karyotyping. CMA is used for uncovering copy number variants (CNVs) thought to play an important role in the pathogenesis of a variety of disorders, primarily neurodevelopmental disorders and congenital anomalies. CMA may be applied in the prenatal or postnatal setting, with unique benefits and limitations in each setting. The growing use of CMA makes it essential for practicing physicians to understand the principles of this technology and be aware of its powers and limitations.
Buscar en Google
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Diagnóstico Prenatal
/
Cromosomas
/
Análisis por Micromatrices
Tipo de estudio:
Diagnostic_studies
Límite:
Adult
/
Female
/
Humans
/
Newborn
/
Pregnancy
Idioma:
En
Revista:
Pediatr Endocrinol Rev
Asunto de la revista:
ENDOCRINOLOGIA
/
PEDIATRIA
Año:
2015
Tipo del documento:
Article