title: Microdeletion and microduplication 22q11.2 screening in 295 patients with clinical features of DiGeorge/Velocardiofacial syndrome.
abstract: The 22q11.2 region is susceptible to chromosomal rearrangements, leading to various types of congenital malformation and mental retardation. The most common anomaly is 22q11.2 microdeletion, associated with DiGeorge/Velocardiofacial syndrome (DG/VCFS). Recently the microduplication 22q11.2 syndrome has been identified. Some clinical features in patients with this new chromosomal disorder present a substantial overlap with DG/VCFS. The aim of this hospital-based study was to evaluate the incidence of deletions and duplications on 22q11.2 in patients with DG/VCFS features. We investigated a group of 295 patients with widely variable manifestations associated with DG/VCFS. Along with the clinical diagnoses different anomalies were noted such as conotruncal cardiac anomaly, velopharyngeal insufficiency, characteristic facial dysmorphic features, language impairment, developmental delay/learning difficulties, and immunologic anomalies or thymic hypoplasia. Laboratory studies included conventional cytogenetic and FISH testing. Metaphase and interphase cells were analyzed for the presence of 22q11.2 microdeletion or microduplication. There were 12 patients who carried 22q11.2 microdeletion and no microduplication in the region was identified. Other chromosomal anomalies were reported in five patients with an overlapped DG/VCFS phenotype. All patients with 22q11.2 microdeletion showed a characteristic phenotype of DG/VCFS. We did not identify 22q11.2 microduplication, suggesting that this is a rare event in patients with DG/VCFS features.
authors.affiliation: Laboratori de Genètica, UDIAT-Centre Diagnòstic, Servei de Pediatria, Fundació Parc Taulí Institut Universitari UAB, Corporació Sanitària Parc Taulí, Sabadell, Spain. abrunetv@cspt.es
authors.forename: Anna
authors.initials: A
authors.lastname: Brunet
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Gabau
authors.forename: Rosa Maria
authors.initials: RM
authors.lastname: Perich
authors.forename: Laura
authors.initials: L
authors.lastname: Valdesoiro
authors.forename: Carme
authors.initials: C
authors.lastname: Brun
authors.forename: Maria Rosa
authors.initials: MR
authors.lastname: Caballín
authors.forename: Miriam
authors.initials: M
authors.lastname: Guitart
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D003582:Cytogenetics; D004062:DiGeorge Syndrome / Q000235:genetics*; D005260:Female; D005820:Genetic Testing; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D008297:Male; D010641:Phenotype