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Encyclopedia of Autism Spectrum Disorders pp 1669–1670Cite as

Karyotype

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Definition

A karyotype is an organized picture of an individual’s entire set of chromosomes: 22 pairs of autosomes (nonsex chromosomes) and 1 pair of sex chromosomes (XX or XY). Karyotypes are used in cytogenetics to identify abnormalities in the number or gross structure of an individual’s chromosomes (Jorde, Carey, & Bamshad, 2010). The picture that makes up the karyotype is taken during metaphase because the chromosomes are condensed and more easily visualized during this stage of mitosis. The chromosomes are stained with Giemsa stain, which produces a characteristic set of bands (G bands), and aids in the identification of alterations in chromosome structure, such as large deletions, duplications, or inversions (Jorde et al., 2010).

Recent guidelines recommend obtaining a karyotype as well as testing for fragile X syndrome in the evaluation of all individuals with autism spectrum disorders (ASD) (Lintas & Persico, 2009; Schaefer & Mendelsohn, 2008). The rationale for this...

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References and Readings

  • Jorde, L. B., Carey, J. C., & Bamshad, M. J. (2010). Jorde: Medical genetics (4th ed.). Philadelphia: Mosby.

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  • Lintas, C., & Persico, A. M. (2009). Autistic phenotypes and genetic testing: State-of-the-art for the clinical geneticist. Journal of Medical Genetics, 46(1), 1–8.

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  • Schaefer, G. B., & Mendelsohn, N. J. (2008). Clinical genetics evaluation in identifying the etiology of autism spectrum disorders. Genetics in Medicine, 10(4), 301–305.

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  • Shen, Y., Dies, K. A., Holm, I. A., Bridgemohan, C., Sobeih, M. M., Caronna, E. B., et al. (2010). Clinical genetic testing for patients with autism spectrum disorders. Pediatrics, 125(4), e727–e735.

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Authors and Affiliations

  1. Albert J. Solnit Integrated Training Program, Yale Child Study Center, 230 South Frontage Road, New Haven, CT, 06520, USA

    Dr. Ellen J. Hoffman

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  1. Dr. Ellen J. Hoffman
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Correspondence to Ellen J. Hoffman .

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Editors and Affiliations

  1. Irving B. Harris Professor of Child Psychiatry, Pediatrics and Psychology Yale University School of Medicine, Chief, Child Psychiatry Children's Hospital at Yale-New Haven Child Study Center, New Haven, CT, USA

    Fred R. Volkmar (Director, Child Study Center) (Director, Child Study Center)

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© 2013 Springer Science+Business Media New York

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Hoffman, E.J. (2013). Karyotype. In: Volkmar, F.R. (eds) Encyclopedia of Autism Spectrum Disorders. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-1698-3_1329

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  • DOI: https://doi.org/10.1007/978-1-4419-1698-3_1329

  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4419-1697-6

  • Online ISBN: 978-1-4419-1698-3

  • eBook Packages: Behavioral Science

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