The Genetics of Autism

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Date
2011
Authors
Sokol, Deborah K.
Lahiri, Debomoy K.
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American English
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Department of Neurology, Indiana University School of Medicine
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Springer Nature
Abstract

This chapter is written to make the fast-paced, expanding field of the genetics of autism accessible to those practitioners who help children with autism. New genetic knowledge and technology have quickly developed over the past 30 years, particularly within the past decade, and have made many optimistic about our ability to explain autism. Among these advances include the sequencing of the human genome (Lander et al., 2001) and the identification of common genetic variants via the HapMap project (International HapMap Consortium, 2005), and the development of cost-efficient genotyping and analysis technologies (Losh, Sullivan, Trembath, & Piven, 2008). Improvement in technology has led to improved visualization of chromosomal abnormality down to the molecular level. The four most common syndromes associated with autism include fragile X syndrome, tuberous sclerosis, 15q duplications, and untreated phenylketonuria (PKU; Costa e Silva, 2008). FXS and 15q duplications are discussed within the context of cytogenetics. TSC is illustrated within the description of linkage analysis.

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This article is made available for unrestricted research re-use and secondary analysis in any form or by any means with acknowledgement of the original source. These permissions are granted for the duration of the World Health Organization (WHO) declaration of COVID-19 as a global pandemic.
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Amyloid Precursor Protein, Tuberous Sclerosis Complex, Specific Language Impairment, Prader Willi Syndrome, Autism Genetic Resource Exchange
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Sokol, D. K., & Lahiri, D. K. (2011). The Genetics of Autism. International Handbook of Autism and Pervasive Developmental Disorders, 77–97. https://doi.org/10.1007/978-1-4419-8065-6_6
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International Handbook of Autism and Pervasive Developmental Disorders
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Publisher Policy,This article is made available for unrestricted research re-use and secondary analysis in any form or by any means with acknowledgement of the original source. These permissions are granted for the duration of the World Health Organization (WHO) declaration of COVID-19 as a global pandemic.
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https://hdl.handle.net/1805/23150
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https://doi.org/10.1007/978-1-4419-8065-6_6
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