title: Non-penetrance in tuberous sclerosis.
abstract: Non-penetrance has not been reported in tuberous sclerosis when modern non-invasive investigations have been performed. We report a four generation family in which there was a subject with minimal expression and another with non-penetrance between a great grandfather and his great grandson. This situation highlights the need for full investigation of children of tuberous sclerosis patients before counselling a low recurrence risk for the disease.
authors.affiliation: Bath Unit for Research into Paediatrics, Royal United Hospital.
authors.forename: D W
authors.initials: DW
authors.lastname: Webb
authors.forename: J P
authors.initials: JP
authors.lastname: Osborne
mesh_terms: D000328:Adult; D006580:Genetic Carrier Screening; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D012307:Risk Factors; D014402:Tuberous Sclerosis / Q000175:diagnosis / Q000235:genetics*