Article
Intergenerational and intrafamilial phenotypic variability in 22q11.2 deletion syndrome subjects.
BMC medical genetics - 2 Jan 2014
Cirillo Emilia, Giardino Giuliana, Gallo Vera, Puliafito Pamela, Azzari Chiara, Bacchetta Rosa, Cardinale Fabio, Cicalese Maria Pia, Consolini Rita, Martino Silvana, Martire Baldassarre, Molinatto Cristina, Plebani Alessandro, Scarano Gioacchino, Soresina Annarosa, Cancrini Caterina, Rossi Paolo, Digilio Maria Cristina, Pignata Claudio
Abstract excerpt
BACKGROUND: 22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, which occurs in approximately 1:4000 births. Familial autosomal dominant recurrence of the syndrome is detected in about 8-28% of the cases. Aim of this study is to evaluate the intergenerational and intrafamilial phenotypic variability in a cohort of familial cases carrying a 22q11.2 deletion. METHODS: Thirty-two 22q11.2DS...
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