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The Genetics of Turner Syndrome

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Abstract

On the surface the genetics of Turner syndrome (TS) would appear straightforward, as many affected females have 45,X. This chapter reviews the structure and function of the sex chromosomes and the multitude of chromosomal differences that can be seen in females with TS, including sex chromosome mosaicism. This chapter also explores the unique features of the X chromosome, including X-chromosome inactivation, and evidence for and against the existence of imprinted genes on the X chromosome. In order to fully understand the clinical features seen in individuals with TS, mechanisms leading to structural rearrangements of the sex chromosomes are discussed, as is an overview of important genes that reside on the X chromosome. Finally, this chapter summarizes the recommended genetic testing when Turner syndrome is suspected in both a prenatal and a postnatal setting and recurrence risks when a family has had one girl with Turner syndrome.

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Authors and Affiliations

  1. Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine and Seattle Children’s Hospital, Seattle, WA, USA

    Margaret P. Adam

  2. Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine and Lucile Salter Packard Children’s Hospital, Stanford, CA, USA

    Melanie A. Manning

  3. Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA

    Melanie A. Manning

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  1. Margaret P. Adam
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Correspondence to Margaret P. Adam .

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Editors and Affiliations

  1. Division of Endocrinology, Seattle Children’s Hospital, University of Washington, Seattle, WA, USA

    Patricia Y. Fechner

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Adam, M.P., Manning, M.A. (2020). The Genetics of Turner Syndrome. In: Fechner, P. (eds) Turner Syndrome. Springer, Cham. https://doi.org/10.1007/978-3-030-34150-3_2

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