title: Cognitive deficit, learning difficulties, severe behavioral abnormalities and healed cleft lip in a patient with a 1.2-mb distal microduplication at 22q11.2.
abstract: The 22q11.2 duplication syndrome has been recently characterized as a new entity with features overlapping the 22q11.2 deletion syndrome. Most 22q11.2 duplications represent reciprocal events of the typical 3-Mb deletions extending between low copy repeat (LCR) 22-A and LCR22-D. It has been suggested that the clinical manifestations observed in patients with 22q11.2 microduplications may range from milder phenotypes to multiple severe defects, and this variability could be responsible for many undetected cases. Here, we report on a patient with a 1.2-Mb microduplication at 22q11.2 spanning LCR22-F and LCR22-H which harbor the SMARCB1 and SNRPD3 genes. The patient presented healed cleft lip, mild facial dysmorphism, cognitive deficit, and delayed language development associated with severe behavioral problems including learning difficulties and aggressive behavior.
authors.affiliation: Division of Syndromology, Department of Clinical Genetics and Molecular Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru, Brazil ; Department of Genetics, University of São Paulo State, Botucatu, Brazil.
authors.forename: L A
authors.initials: LA
authors.lastname: Ribeiro-Bicudo
authors.forename: C
authors.initials: C
authors.lastname: de Campos Legnaro
authors.forename: B F
authors.initials: BF
authors.lastname: Gamba
authors.forename: R M
authors.initials: RM
authors.lastname: Candido Sandri
authors.forename: A
authors.initials: A
authors.lastname: Richieri-Costa
keywords: Cleft lip; MLPA; Microduplication 22q11.2; SMARCB1; SNRPD3; aCGH