Genome-wide copy number variation analysis in idiopathic intellectual disability/multiple congenital anomalies.
Genet Couns
; 25(2): 221-9, 2014.
Article
en En
| MEDLINE
| ID: mdl-25059023
New array technologies have facilitated the analysis of submicroscopic chromosomal imbalances and structural variants. Copy number variation (CNV) analysis can reveal genetic imbalances in up to 10% of cases involving intellectual disability (ID), with or without multiple congenital anomalies (MCA). Here we present 4 cases, diagnosed by CNV analysis using Affymetrix Genome Wide Human SNP 6.0 array, and their parents. CNVs ranging from 18 to 196 per subject, with a size range of 100kb- 6093kb, were detected in all cases. One case revealed inherited CNVs, whilst de novo ins/dels were found in the other three which may be causative factors in the development of clinical pictures. Microarray technology may help to reveal the etiology of ID and is a potentially useful diagnostic tool for patients with ID/MCA.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
/
Genoma
/
Variaciones en el Número de Copia de ADN
/
Discapacidad Intelectual
Límite:
Child
/
Female
/
Humans
/
Infant
/
Male
Idioma:
En
Revista:
Genet Couns
Asunto de la revista:
ETICA
/
GENETICA MEDICA
Año:
2014
Tipo del documento:
Article
Pais de publicación:
Suiza