Ontology highlight
ABSTRACT:
SUBMITTER: Cirillo E
PROVIDER: S-EPMC3893549 | biostudies-literature | 2014
REPOSITORIES: biostudies-literature
Cirillo Emilia E Giardino Giuliana G Gallo Vera V Puliafito Pamela P Azzari Chiara C Bacchetta Rosa R Cardinale Fabio F Cicalese Maria Pia MP Consolini Rita R Martino Silvana S Martire Baldassarre B Molinatto Cristina C Plebani Alessandro A Scarano Gioacchino G Soresina Annarosa A Cancrini Caterina C Rossi Paolo P Digilio Maria Cristina MC Pignata Claudio C
BMC medical genetics 20140102
<h4>Background</h4>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.<h4>Methods</h4>Thirty-two 22q11.2DS subjects among 26 families were enrolled.<h4>Results</h4>Second generation ...[more]