Xp22.33p22.12 Duplication in a Patient with Intellectual Disability and Dysmorphic Facial Features.
Mol Syndromol
; 6(5): 236-41, 2016 Feb.
Article
em En
| MEDLINE
| ID: mdl-26997944
ABSTRACT
A novel 19.98-Mb duplication in chromosome Xp22.33p22.12 was detected by array CGH in a 30-year-old man affected by intellectual disability, congenital hypotonia and dysmorphic features. The duplication encompasses more than 100 known genes. Many of these genes (such as neuroligin 4, cyclin-dependent kinase like 5, and others) have already correlated with X-linked intellectual disability and/or neurodevelopmental disorders. Due to the high number of potentially pathogenic genes involved in the reported duplication, we cannot correlate the clinical phenotype to a single gene. Indeed, we suggest that the resulting clinical phenotype may have arisen from the overexpression and consequent perturbation of fine gene dosage.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Mol Syndromol
Ano de publicação:
2016
Tipo de documento:
Article