title: Microdeletion 2q23.3q24.1: exploring genotype-phenotype correlations.
abstract: We report a case of a 13-year-old girl with a 5.4 Mb de novo deletion, encompassing bands 2q23.3q24.1, identified by array-comparative genomic hybridization. She presented with minor facial and digital anomalies, mild developmental delay during infancy, and behavioral disorders. Few of the reported cases overlap this deletion and all only partially. We tried to compare the clinical features of the patient with the other cases, even though not all of them were molecularly characterized in detail. Considering the neuropsychiatric involvement of the proband and the clinical descriptions of other similar cases, we attempted to identify the genes more probably involved in neurological development and function in the deleted region, particularly GALNT13, KCNJ3 and NR4A2, which are expressed in neuronal cells.
authors.affiliation: Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Milan, Italy.
authors.forename: Donatella
authors.initials: D
authors.lastname: Milani
authors.forename: Caterina
authors.initials: C
authors.lastname: Sabatini
authors.forename: Francesca Maria Paola
authors.initials: FM
authors.lastname: Manzoni
authors.forename: Paola Francesca
authors.initials: PF
authors.lastname: Ajmone
authors.forename: Claudia
authors.initials: C
authors.lastname: Rigamonti
authors.forename: Michela
authors.initials: M
authors.lastname: Malacarne
authors.forename: Mauro
authors.initials: M
authors.lastname: Pierluigi
authors.forename: Simona
authors.initials: S
authors.lastname: Cavani
authors.forename: Maria Antonella
authors.initials: MA
authors.lastname: Costantino
mesh_terms: D000293:Adolescent; D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics*; D002889:Chromosomes, Human, Pair 2; D055028:Comparative Genomic Hybridization; D005260:Female; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D009483:Neuropsychological Tests; D010641:Phenotype
keywords: 2q deletion; 2q23q24; array-comparative genomic hybridization; behavioral disorders