Molecular and cytogenetic analyses on Brazilian youths with pervasive developmental disorders

Journal of Autism and Developmental Disorders
MarcosRobertoHigino EstécioAna Elizabete Silva

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.

Citations

Jan 9, 2009·American Journal of Mental Retardation : AJMR·Susan W HarrisRandi J Hagerman
Jul 16, 2008·American Journal of Medical Genetics. Part a·Catalina García-NonellRandi J Hagerman
Oct 13, 2011·Genetic Testing and Molecular Biomarkers·Tri Indah WinarniFlora Tassone
Nov 21, 2013·Expert Opinion on Investigational Drugs·Baltazar Gomez-MancillaSébastien Jacquemont
Jun 4, 2010·Journal of Autism and Developmental Disorders·Jennifer YuhasDavid Hessl
Feb 25, 2005·Revista brasileira de psiquiatria : orgão oficial da Associação Brasileira de Psiquiatria, Asociación Psiquiátrica de la América Latina·Gianna CarvalheiraDécio Brunoni
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Mar 3, 2006·Journal of Developmental and Behavioral Pediatrics : JDBP·Randi J Hagerman
Aug 6, 2013·Intellectual and Developmental Disabilities·Brenda FinucaneElliott W Simon
Feb 13, 2003·Cancer Genetics and Cytogenetics·Cristina Benitez Vendrame-GoloniAgnes Cristina Fett-Conte
May 4, 2004·Pediatrics·Rebecca MuhleIsabelle Rapin
Jan 5, 2022·American Journal of Medical Genetics. Part a·Ana Cristina De Sanctis GirardiMaria Rita Passos-Bueno

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