title: Molecular and cytogenetic analyses on Brazilian youths with pervasive developmental disorders.
abstract: The Pervasive Developmental Disorders (PDDs) constitute a group of behavioral and neurobiological impairment conditions whose main features are delayed communicative and cognitive development. Genetic factors are reportedly associated with PDDs and particular genetic abnormalities are frequently found in specific diagnostic subgroups such as the autism spectrum disorders. This study evaluated cytogenetic and molecular parameters in 30 youths with autism or other PDDs. The fragile X syndrome was the most common genetic abnormality detected, presented by 1 patient with autism and 1 patient with PPD not-otherwise specified (PPD-NOS). One girl with PDD-NOS was found to have tetrasomy for the 15q11-q13 region, and one patient with autism exhibited in 2/100 metaphases an inv(7)(p35q36), thus suggesting a mosaicism 46,XX/46,XX,inv(7)(p15q36) or representing a coincidental finding. The high frequency of chromosomopathies support the hypothesis that PDDs may develop as a consequence to chromosomal abnormalities and justify the cytogenetic and molecular assessment in all patients with PDDs for establishment of diagnosis.
authors.affiliation: Laboratório de Citogenética e Biologia Molecular, Instituto de Bio ciências, Letras e Ciências Exatas-UNESP Campus de São José do Rio Preto, SP, Brazil.
authors.forename: MarcosRobertoHigino
authors.initials: M
authors.lastname: Estécio
authors.forename: Agnes Cristina
authors.initials: AC
authors.lastname: Fett-Conte
authors.forename: Marileila
authors.initials: M
authors.lastname: Varella-Garcia
authors.forename: Cíntia
authors.initials: C
authors.lastname: Fridman
authors.forename: Ana Elizabete
authors.initials: AE
authors.lastname: Silva
mesh_terms: D000293:Adolescent; D000328:Adult; D020817:Asperger Syndrome / Q000175:diagnosis / Q000235:genetics; D001321:Autistic Disorder / Q000175:diagnosis / Q000235:genetics*; D001938:Brazil; D002648:Child; D002659:Child Development Disorders, Pervasive / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000145:classification*; D004252:DNA Mutational Analysis; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D007621:Karyotyping; D008297:Male; D016133:Polymerase Chain Reaction; D015518:Rett Syndrome / Q000175:diagnosis / Q000235:genetics