Literature DB >> 10398260

Paradominant inheritance, a hypothesis explaining occasional familial occurrence of sporadic syndromes.

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.

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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


  1 in total

1.  [Klippel-Trénaunay syndrome. A rare cause of recurrent macrohematuria: case report].

Authors:  L Rinnab; T Paiss; R Küfer
Journal:  Urologe A       Date:  2006-06       Impact factor: 0.639

  1 in total

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