Co-occurrence of a de novo Williams and 22q11.2 microdeletion syndromes

Abstract

We report on a child with de novo deletions involving the 7q11.23 (Williams syndrome) and 22q11.2 (Velocardiofacial/DiGeorge syndrome) regions. We describe the clinical features of this rare double microdeletion syndrome reported here for the first time.

Keywords: DiGeorge syndrome; Williams syndrome; chromosome 22q11.2 deletion syndrome; chromosome 7q11.23 microdeletion syndrome.