De novo deletion of chromosome 2q24.2 region in a mentally retarded boy with muscular hypotonia.
Eur J Med Genet
; 54(3): 361-4, 2011.
Article
en En
| MEDLINE
| ID: mdl-21211576
ABSTRACT
To date, more than 100 cases with a deletion of chromosome 2q have been identified, although studies reporting small interstitial deletions involving the 2q24.2-q24.3 region are still rare. Here, we have described the genotype and the phenotype of a boy with a 5.3 Mb de novo deletion in this region, identified by SNP array analysis. The selected region included 20 genes, of which 4 are prominently expressed in the brain. Their combined haplo-insufficiency could explain the main clinical features of this patient which included mental retardation, severe hypotonia, joint laxity and mild dysmorphic traits.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
/
Cromosomas Humanos Par 2
/
Deleción Cromosómica
/
Trastornos de los Cromosomas
/
Discapacidad Intelectual
/
Hipotonía Muscular
Tipo de estudio:
Prognostic_studies
Límite:
Child, preschool
/
Humans
/
Male
Idioma:
En
Revista:
Eur J Med Genet
Asunto de la revista:
GENETICA MEDICA
Año:
2011
Tipo del documento:
Article
País de afiliación:
Italia