Working up autism: The practical role of medical genetics

Authors

  • Fiorella Gurrieri

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    1. Istituto di Genetica Medica, Università Cattolica del S. Cuore, L.go F. Vito 1, 00168 Roma, Italy
    • Istituto di Genetica Medica, Università Cattolica del S. Cuore, L.go F. Vito 1, 00168 Roma, Italy.
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    • Fiorella Gurrieri is associate professor of Medical Genetics at the Catholic University of Rome, School of Medicine. She is involved in clinical and molecular genetics. Her research is focused on the genetic aspects of autism and specifically she has investigated quantitative and qualitative genomic alterations and their phenotypic consequences. A second research field includes the application of new genomic technologies to identify the causes of congenital defects.


  • How to cite this article: Gurrieri F. 2012. Working up autism: The practical role of medical genetics. Am J Med Genet Part C Semin Med Genet 160C:104–110.

Abstract

The autism spectrum disorders (ASD) comprise a group of neurobehavioral phenotypes of heterogeneous etiology. In spite of a worldwide extensive research effort to unravel the genetic mystery of autism, medical geneticists are still facing an embarrassing lack of knowledge in dealing with the diagnosis, and consequently prognosis, of a child with autism. However, some lessons can be learned from accumulating experience in the clinical and molecular genetic evaluation of children with this condition. Patient evaluation, indications for molecular testing and counseling are the three aspects that will be discussed in this review. © 2012 Wiley Periodicals, Inc.

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