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Antenatal and Neonatal Screening$
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Nicholas Wald and Ian Leck

Print publication date: 2000

Print ISBN-13: 9780192628268

Published to Oxford Scholarship Online: September 2009

DOI: 10.1093/acprof:oso/9780192628268.001.0001

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PRINTED FROM OXFORD SCHOLARSHIP ONLINE (oxford.universitypressscholarship.com). (c) Copyright Oxford University Press, 2021. All Rights Reserved. An individual user may print out a PDF of a single chapter of a monograph in OSO for personal use. date: 16 June 2021

X-linked disorders

X-linked disorders

Chapter:
(p.116) 5 X-linked disorders
Source:
Antenatal and Neonatal Screening
Author(s):

Sarah Bundey

Publisher:
Oxford University Press
DOI:10.1093/acprof:oso/9780192628268.003.0005

This chapter describes the screening for three X-linked disorders: Duchenne muscular dystrophy, the Fragile X syndrome, and X-linked retinitis pigmentosa. The primary screening test for these disorders is the family history, which is followed when positive by molecular studies, or by retinal function assessment if these is a history of X-linked retinitis pigmentosa. Only minorities of fetuses with the three diseases are detected by this approach.

Keywords:   antenatal screening, family history, duchenne muscular dystrophy, fragile X syndrome, x-linked retinitis pigmentosa

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