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Prenatal Diagnosis of the Fragile-X Syndrome

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Antenatal Diagnosis of Fetal Abnormalities

Abstract

The Martin-Bell syndrome is a common form of X-linked mental retardation, characterised by co-segregation with a fragile site at Xq27.3 (FRAXA). With a birth frequency of approximately 0.4–0.8/1000 males and 0.2–0.6/1000 females [1–4], this syndrome is second only to Down’s as the most common form of heritable mental retardation. Penetrance in males in whom the fragile-X can be demonstrated (as opposed to the usually FRAXA negative yet gene-carrying transmitting males) is considered to be approximately 100%, while about one-third of carrier females are mentally impaired to some degree. The fragile site is nearly always found in affected female heterozygotes but is detected in only between a half and two-thirds of those of normal intelligence. In general those who are handicapped express the fragile Xq27.3 more easily than those who are not, but approximately 10% of normal female carriers do express FRAXA at a high level [5,6]

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Authors
  1. T. Webb
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Editors and Affiliations

  1. Clarendon Wing, Leeds General Infirmary, LS2 9NS, Leeds, UK

    James O. Drife MD, FRCSEd, FRCOG (Professor of Obstetrics and Gynaecology) (Professor of Obstetrics and Gynaecology)

  2. Department of Medical Genetics, St Mary’s Hospital, Whitworth Park, M13 0JH, Manchester, UK

    Dian Donnai MBBS, FRCP, DCH, DObst, RCOG (Consultant Clinical Geneticist) (Consultant Clinical Geneticist)

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© 1991 Springer-Verlag London Limited

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Webb, T. (1991). Prenatal Diagnosis of the Fragile-X Syndrome. In: Drife, J.O., Donnai, D. (eds) Antenatal Diagnosis of Fetal Abnormalities. Springer, London. https://doi.org/10.1007/978-1-4471-1854-1_13

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  • DOI: https://doi.org/10.1007/978-1-4471-1854-1_13

  • Publisher Name: Springer, London

  • Print ISBN: 978-1-4471-1856-5

  • Online ISBN: 978-1-4471-1854-1

  • eBook Packages: Springer Book Archive

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