Restoring reproductive confidence in families with X-linked mental retardation by finding the causal mutation (letter)

Title: Restoring reproductive confidence in families with X-linked mental retardation by finding the causal mutation (letter)
Creator: Turner, G.; Boyle, J.; Partington, M. W.; Kerr, B.; Raymond, F. L.; Gecz, J.
Relation: Clinical Genetics Vol. 73, Issue 2, p. 188-190
Publisher Link: http://dx.doi.org/10.1111/j.1399-0004.2007.00929.x
Publisher: Wiley-Blackwell
Resource Type: journal article
Date: 2008
Description: Here, we describe the effects, first, of genetic counselling about the X-linked inheritance alone and, second, of finding the causal mutation on the reproductive decisions of women from 38 families with XLMR. We estimate that without knowing that the cause of their son’s learning disability was probably X linked, the first group of 48 women would have had 86 children of which nine would have been affected sons. In fact, post-counselling, without mutation identification, the number of affected children born was only two. This can be regarded as a good outcome for the community in a cost-benefit analysis.
Subject: fragile X; genetic counselling; outcomes
Identifier: uon:5656
Identifier: http://hdl.handle.net/1959.13/43570
Identifier: ISSN:0009-9163
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