Xp22.33p22.12 Duplication in a Patient with Intellectual Disability and Dysmorphic Facial Features

Molecular Syndromology

Carla Lintas¹  Chiara Picinelli¹  Roberto Sacco¹  Antonio M. Persico¹  Magda Verdecchia¹  Ignazio S. Piras¹  Stefano Gabriele¹ 

[1] aUnit of Child and Adolescent NeuroPsychiatry, University Campus Bio-Medico, Rome, Italy

关键词: Duplication Xp22.33p22.12;    Dysmorphic facial features;    Intellectual disability;   

DOI  :  10.1159/000443232

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

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.

【 授权许可】

Unknown