title: A case of autism with an interstitial 1q deletion (1q23.3-24.2) and a de novo translocation of chromosomes 1q and 5q.
abstract: Chromosomal abnormalities may cause autism by disrupting a gene or by providing a permissive genetic environment for mutations elsewhere in the genome to become expressed as autism. We report here on a patient with an apparently balanced de novo translocation of chromosomes 1q and 5q. He presented with minor dysmorphic features and renal malformations, mental retardation, and autism. Further characterization of the chromosomal rearrangement by FISH revealed a deletion in chromosome 1 from q23.3 to q24.2 corresponding to a region of rising interest in the research of autism susceptibility genes. The array-CGH technique gave better resolution of the breakpoints and the size of the deletion was calculated to be 4.97 Mb.
authors.affiliation: Medical Genetics Department, Gaetano Rummo Hospital, Benevento, Italy.
authors.forename: Matteo
authors.initials: M
authors.lastname: Della Monica
authors.forename: Fortunato
authors.initials: F
authors.lastname: Lonardo
authors.forename: Francesca
authors.initials: F
authors.lastname: Faravelli
authors.forename: Mauro
authors.initials: M
authors.lastname: Pierluigi
authors.forename: Daniela Varela
authors.initials: DV
authors.lastname: Luquetti
authors.forename: Manuela
authors.initials: M
authors.lastname: De Gregori
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
authors.forename: Gioacchino
authors.initials: G
authors.lastname: Scarano
mesh_terms: D000015:Abnormalities, Multiple; D001321:Autistic Disorder / Q000235:genetics*; D002875:Chromosomes; D002878:Chromosomes, Human, Pair 1; D002895:Chromosomes, Human, Pair 5; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008607:Intellectual Disability; D008297:Male; D014178:Translocation, Genetic