Chapter

<i>X-linked disorders</i>

Sarah Bundey

in Antenatal and Neonatal Screening

Second edition

Published in print November 2000 | ISBN: 9780192628268
Published online September 2009 | e-ISBN: 9780191723605 | DOI: http://dx.doi.org/10.1093/acprof:oso/9780192628268.003.0005
X-linked disorders

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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

Chapter.  9684 words.  Illustrated.

Subjects: Public Health and Epidemiology

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