TY - JOUR AU - Cirillo, Emilia AU - Giardino, Giuliana AU - Gallo, Vera AU - Puliafito, Pamela AU - Azzari, Chiara AU - Bacchetta, Rosa AU - Cardinale, Fabio AU - Cicalese, Maria Pia AU - Consolini, Rita AU - Martino, Silvana AU - Martire, Baldassarre AU - Molinatto, Cristina AU - Plebani, Alessandro AU - Scarano, Gioacchino AU - Soresina, Annarosa AU - Cancrini, Caterina AU - Rossi, Paolo AU - Digilio, Maria Cristina AU - Pignata, Claudio PY - 2014 DA - 2014/01/02 TI - Intergenerational and intrafamilial phenotypic variability in 22q11.2 Deletion syndrome subjects JO - BMC Medical Genetics SP - 1 VL - 15 IS - 1 AB - 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. SN - 1471-2350 UR - https://doi.org/10.1186/1471-2350-15-1 DO - 10.1186/1471-2350-15-1 ID - Cirillo2014 ER -