Androlog Mail
{Regarding the query concerning CF 5T alleles:}
We have published both observations of the frequency of CBAVD in brothers
of patients as well as estimates of inheritance of this condition for
couples with prior CF testing. The reference for this work is:
Shin D, Gilbert F, Goldstein M, Schlegel PN. Congenital absence of the vas
deferens: Incomplete penetrance of cystic fibrosis gene mutations. J Urol
158: 1794-1799, 1997.
This work provides estimates of the chances of having a boy with CBAVD,
which is very low. Incomplete penetrance appears to keep the risk of
having a child affected by CBAVD to a very low level (estimated at 1% if
the wife is - for tested CF mutations, including 5T allele evaluation.
Peter Schlegel
pnschleg@med.cornell.edu
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