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

✍ Scribed by Steijlen, Peter M.; van Steensel, Maurice A.M.

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 14 KB
Volume: 85
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990806)85:4<359::aid-ajmg10>3.0.co;2-v

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✦ Synopsis

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.

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