Molecular and Cytogenetic Analyses on Brazilian Youths with Pervasive Developmental Disorders |
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| Authors: | Marcos Roberto Higino Estécio Agnes Cristina Fett-Conte Marileila Varella-Garcia Cíntia Fridman Ana Elizabete Silva |
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| Affiliation: | (1) Laboratório de Citogenética e Biologia Molecular, Instituto de Biociências, Letras e Ciências Exatas-, UNESP Campus de São, José do Rio Preto, SP, Brazil;(2) Laboratório de Genética, Departamento de Biologia Molecular, FAMERP, São José do Rio Preto, SP, Brazil;(3) University of Colorado Health Sciences Center, Denver, CO, USA;(4) Instituto de Biociências, Universidade de São Paulo, São Paulo, SP, Brazil |
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| 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)(p15q36), 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. |
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| Keywords: | Cytogenetic analysis PDD PDD-NOS fragile X genetic factors |
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