title: Clinical variability of the 22q11.2 duplication syndrome.
abstract: The 22q11.2 duplication syndrome is an extremely variable disorder with a phenotype ranging from normal to learning disability and congenital defects. Both patients with a de novo 22q11.2 duplication and patients in whom the duplication has been inherited from a phenotypically normal parent have been reported. In this study we present two familial cases with a 3Mb 22q11.2 duplication detected by array-CGH. We also review the findings in 36 reported cases with the aim of delineating the phenotype of the 22q11.2 duplication syndrome. In a majority of the reported cases where parents have been tested, the duplication seems to have been inherited from a normal parent with minor abnormalities. With this in mind we recommend that family members of patients with a 22q11.2 duplication to be tested for this genetic defect.
authors.affiliation: Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden.
authors.forename: Christian
authors.initials: C
authors.lastname: Wentzel
authors.forename: Maria
authors.initials: M
authors.lastname: Fernström
authors.forename: Ylva
authors.initials: Y
authors.lastname: Ohrner
authors.forename: Göran
authors.initials: G
authors.lastname: Annerén
authors.forename: Ann-Charlotte
authors.initials: AC
authors.lastname: Thuresson
mesh_terms: D002675:Child, Preschool; D002869:Chromosome Aberrations; D002892:Chromosomes, Human, Pair 22; D000013:Congenital Abnormalities / Q000235:genetics; D005260:Female; D006801:Humans; D007859:Learning Disabilities / Q000235:genetics; D008297:Male; D009693:Nucleic Acid Hybridization; D010641:Phenotype; D013577:Syndrome