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Chromosomes, Genes and Autism

  • Randi J. Hagerman

Abstract

Advances of the last decade in medical science, particularly in the fields of cytogenetic and metabolic disease, have elucidated specific etiologies for many individuals with autism. Although the largest group still remains idiopatic, detailed studies have demonstrated a documentable organic etiology in over 25% of children with autism (Gillberg Wahlström, 1985). The most prevalent single etiology for autism is the fragile X syndrome. Since the association was first identified by Brown and co-workers in 1982, cytogenetic studies have become an integral part of the medical workup of children with autism and pervasive development delays. The search for fragile X has enhanced our appreciation of all types of cytogenetic abnormalities in individuals with developmental disabilites. When fragile Xis not found, occasionally other abnormalities, including autosomal or sex chromosomal problems, are present (Gillberg & Wahlström, 1985; Hagerman et al., 1988). This chapter will review the association of autism with cytogenetic abnormalites, including the fragile X syndrome and, to a lesser degree, single gene disorder.

Keywords

Down Syndrome Congenital Adrenal Hyperplasia Autistic Child Asperger Syndrome Medical Genetic 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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  • Randi J. Hagerman

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