Article
Variegated silencing through epigenetic modifications of a large Xq region in a case of balanced X;2 translocation with Incontinentia Pigmenti-like phenotype.
Epigenetics - 1 Oct 2011
Genesio Rita, Melis Daniela, Gatto Sole, Izzo Antonella, Ronga Valentina, Cappuccio Gerarda, Lanzo Ambra, Andria Generoso, D'Esposito Maurizio, Matarazzo Maria R, Conti Anna, Nitsch Lucio
Abstract excerpt
Molecular mechanisms underlying aberrant phenotypes in balanced X;autosome translocations are scarcely understood. We report the case of a de novo reciprocal balanced translocation X;2(q23;q33) presenting phenotypic alterations highly suggestive of Incontinentia Pigmenti (IP) syndrome, a genodermatosis with abnormal skin pigmentation and neurological failure, segregating as X-linked dominant disorder. Through...
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