title: De novo deletion of chromosome 2q24.2 region in a mentally retarded boy with muscular hypotonia.
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.
authors.affiliation: Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnology, Brescia University School of Medicine, Brescia, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Magri
authors.forename: Giovanna
authors.initials: G
authors.lastname: Piovani
authors.forename: Alba
authors.initials: A
authors.lastname: Pilotta
authors.forename: Traversa
authors.initials: T
authors.lastname: Michele
authors.forename: Fabio
authors.initials: F
authors.lastname: Buzi
authors.forename: Sergio
authors.initials: S
authors.lastname: Barlati
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000235:genetics* / Q000473:pathology; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability / Q000473:pathology*; D007621:Karyotyping; D008297:Male; D046228:Microarray Analysis / Q000379:methods; D009123:Muscle Hypotonia / Q000473:pathology*; D020641:Polymorphism, Single Nucleotide