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Genetic Disorders Associated With the Autism Spectrum Disorder Phenotype 

Genetic Disorders Associated With the Autism Spectrum Disorder Phenotype
Genetic Disorders Associated With the Autism Spectrum Disorder Phenotype

Lawrence K. Fung

and Allan L. Reiss

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date: 24 May 2022

This chapter introduces basic concepts on genetic disorders where phenotypic expression includes symptoms consistent with autism spectrum disorder (ASD), as well as clinically applicable approaches to diagnosing these disorders. It first describes these disorders based on molecular genetics. Then, it describes eight specific genetic syndromes (fragile X syndrome, Rett syndrome, neurofibromatosis type 1, tuberous sclerosis, Smith–Magenis syndrome, velocardiofacial syndrome, XYY syndrome, and Smith–Lemli–Opitz syndrome) in more detail. A systematic approach for considering genetic evaluation of individuals who have a diagnosis of ASD is introduced. Finally, some of the concepts presented in this chapter are illustrated through two case studies.

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