title: Partial tetrasomy of chromosome 3q and mosaicism in a child with autism.
abstract: In this report we describe the case of an 11-year-old male with autism and mental retardation, presenting a tetrasomy of chromosome 3q. Cytogenetic analysis showed a mosaic for an unbalanced karyotype consisting of mos46,XY,add(12)(p13.3)(56)/46,XY(45). FISH using WCP and subtelomeric probes identified the extra material on 12p to be an inverted duplication of the distal segment of chromosome 3q. Anomalies in chromosome 3q have not been previously described in association with autism, although association with psychomotor delays and behavior problems has been frequently reported and are here further discussed. This chromosomal 3q segment is therefore likely to include genes involved in specific neurodevelopment pathways, and further analysis of the region is warranted for the identification of the molecular alterations that lead to the autistic features described.
authors.affiliation: Centro de Desenvolvimento da Criança, Hospital Pediátrico Coimbra, Portugal. guiomar@hpc.chc.min-saude.pt
authors.forename: Guiomar
authors.initials: G
authors.lastname: Oliveira
authors.forename: Eunice
authors.initials: E
authors.lastname: Matoso
authors.forename: Astrid
authors.initials: A
authors.lastname: Vicente
authors.forename: Patricia
authors.initials: P
authors.lastname: Ribeiro
authors.forename: Carla
authors.initials: C
authors.lastname: Marques
authors.forename: Assunção
authors.initials: A
authors.lastname: Ataíde
authors.forename: Teresa
authors.initials: T
authors.lastname: Miguel
authors.forename: Jorge
authors.initials: J
authors.lastname: Saraiva
authors.forename: Isabel
authors.initials: I
authors.lastname: Carreira
mesh_terms: D000782:Aneuploidy; D001321:Autistic Disorder / Q000175:diagnosis / Q000235:genetics* / Q000523:psychology; D002648:Child; D020223:Chromosome Painting; D002893:Chromosomes, Human, Pair 3; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics / Q000523:psychology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics / Q000523:psychology; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D009483:Neuropsychological Tests; D010348:Patient Care Team