| Literature DB >> 10398260 |
P M Steijlen1, M A van Steensel.
Abstract
Heterozygous individuals carrying a "paradominant" mutation, as a rule, are phenotypically normal. Therefore, the mutation can be transmitted unperceived through many generations. The trait becomes manifest when a somatic mutation occurs during embryogenesis giving rise to loss of heterozygosity and forming a mutant cell population, being either homozygous or hemizygous for the mutation. This concept explains the occasional familial occurrence of usually sporadic traits like the Klippel-Trenaunay syndrome and others. Copyright 1999 Wiley-Liss, Inc.Entities:
Mesh:
Year: 1999 PMID: 10398260 DOI: 10.1002/(sici)1096-8628(19990806)85:4<359::aid-ajmg10>3.0.co;2-v
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299