Chapter

The Fragile X Syndromes

R. J. McKinlay Gardner, Grant R. Sutherland and Lisa G. Shaffer

in Chromosome Abnormalities and Genetic Counseling

Fourth edition

Published on behalf of Oxford University Press

Published in print November 2011 | ISBN: 9780195375336
Published online October 2012 | e-ISBN: 9780199975174 | DOI: http://dx.doi.org/10.1093/med/9780195375336.003.0015

Series: Oxford Monographs on Medical Genetics

The Fragile X Syndromes

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FRAGILE XA SYNDROME appeared on the cytogenetic scene in the late 1970s, although by the mid-1990s it occupied a predominantly molecular genetic stage. But it is entirely appropriate that it retains a place here, and indeed a whole chapter. Fragile XA syndrome (or simply fragile X syndrome; FXS, in common parlance) is the second most prevalent genetic cause of mental deficiency after Down syndrome, and it is the most common familial cause. The premutational state is associated with a degenerative neurological syndrome typically of onset in late middle age, and, in the female, ovarian insufficiency; and we may speak of the fragile X associated syndromes (FXSs). Fragile XE syndrome is rare, but it is one of the more common forms of nondysmorphic mild intellectual disability.

Chapter.  7914 words.  Illustrated.

Subjects: Clinical Genetics

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