Non-penetrance in tuberous sclerosis

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 sit...

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Bibliographic Details
Published inJournal of medical genetics Vol. 28; no. 6; pp. 417 - 419
Main Authors Webb, D W, Osborne, J P
Format Journal Article
LanguageEnglish
Published London BMJ Publishing Group Ltd 01.06.1991
BMJ
BMJ Publishing Group LTD
Subjects
Adult
Biological and medical sciences
Genetic Carrier Screening
Genetic Counseling
Humans
Male
Medical sciences
Neurology
Risk Factors
Tuberous Sclerosis - diagnosis
Tuberous Sclerosis - genetics
Tumors of the nervous system. Phacomatoses
Human
Nervous system diseases
Child
Gene penetrance
Risk factor
Online AccessGet full text
ISSN0022-2593
1468-6244
1468-6244
DOI10.1136/jmg.28.6.417

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Summary: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.
Bibliography:PMID:1870099
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ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.28.6.417