title: Distal 7q11.23 Duplication, an Emerging Microduplication Syndrome: A Case Report and Further Characterisation.
abstract: Chromosome 7q11.23 duplication syndrome is a well-recognised syndrome which involves the duplication of the same genes located in the Williams-Beuren critical region. However, in 2010, 4 patients were reported with a microduplication only in theHIP1andYWHAGgenes. We refer to this as a distal 7q11.23 duplication (dup7q11.23D). Here, we report the fifth de novo patient with dup7q11.23D, whose symptoms may be explained byYWHAGoverexpression as was demonstrated recently in mice and obese patients. Finally, further studies will be necessary to delineate this emerging microduplication syndrome.
authors.affiliation: Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile, Santiago, Chile.
authors.forename: Víctor
authors.initials: V
authors.lastname: Faundes
authors.affiliation: Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile, Santiago, Chile.
authors.forename: Lorena
authors.initials: L
authors.lastname: Santa María
authors.affiliation: Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile, Santiago, Chile.
authors.forename: Paulina
authors.initials: P
authors.lastname: Morales
authors.affiliation: Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos (INTA), Universidad de Chile, Santiago, Chile.
authors.forename: Bianca
authors.initials: B
authors.lastname: Curotto
authors.affiliation: Servicio de Psiquiatría, Hospital del Salvador, Santiago, Chile.
authors.forename: María M
authors.initials: MM
authors.lastname: Parraguez
keywords: Chromosome 7q11.23 region; Development delay; HIP1; Williams-Beuren duplication syndrome; YWHAG