title: Deletion of 15q11.2(BP1-BP2) region: further evidence for lack of phenotypic specificity in a pediatric population.
abstract: Microdeletion of the BP1-BP2 region at 15q11.2 is a recurrent copy number variant (CNV) frequently found in patients undergoing chromosomal microarray (CMA). Genetic counselling regarding this CNV is challenging due to the wide range of phenotypic presentation in reported patients and lack of general population-based data. As one of the most common reasons for CMA is childhood developmental delay, clinicians need to be cognizant of the inherent ascertainment bias in the literature. We performed a detailed medical record review for 55 patients with this 15q11.2 microdeletion and report the clinical features of the 35 patients for whom information was available. We compared our results to the recent report by Cafferkey et al. in this journal. Our conclusion is that the phenotypic spectrum is too broad and non-specific to constitute a bona fide "syndrome" and that further research must be done to delineate the contribution of this CNV to phenotype.
authors.affiliation: Division of Clinical and Metabolics Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Bita
authors.initials: B
authors.lastname: Hashemi
authors.affiliation: Clinical Genetics Research Program, Center for Addiction and Mental Health, Toronto, Ontario, Canada.
authors.forename: Anne
authors.initials: A
authors.lastname: Bassett
authors.affiliation: Division of Clinical and Metabolics Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.|The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, Ontario, Canada.
authors.forename: David
authors.initials: D
authors.lastname: Chitayat
authors.affiliation: The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, Ontario, Canada.
authors.forename: Karen
authors.initials: K
authors.lastname: Chong
authors.affiliation: Divison of Pediatric Medicine, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Mark
authors.initials: M
authors.lastname: Feldman
authors.affiliation: St. Joseph's Health Center, Toronto, Ontario, Canada.
authors.forename: Janine
authors.initials: J
authors.lastname: Flanagan
authors.affiliation: Department of Pediatrics, Western University Children's Hospital Research Institute, London, Ontario, Canada.
authors.forename: Sharan
authors.initials: S
authors.lastname: Goobie
authors.affiliation: Division of Developmental Pediatrics, Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada.
authors.forename: Anne
authors.initials: A
authors.lastname: Kawamura
authors.affiliation: Clinical Genetics Research Program, Center for Addiction and Mental Health, Toronto, Ontario, Canada.
authors.forename: Chelsea
authors.initials: C
authors.lastname: Lowther
authors.affiliation: Department of Pediatrics, Western University Children's Hospital Research Institute, London, Ontario, Canada.
authors.forename: Chitra
authors.initials: C
authors.lastname: Prasad
authors.affiliation: Department of Pediatrics, Western University Children's Hospital Research Institute, London, Ontario, Canada.
authors.forename: Victoria
authors.initials: V
authors.lastname: Siu
authors.affiliation: The Fred A. Litwin Family Center in Genetic Medicine, University Health Network and Mount Sinai Hospital, Toronto, Canada.|Neurogenetics Lab, Neuroscience Research Department, Center for Addiction and Mental Health, Toronto, Ontario, Canada.|Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Joyce
authors.initials: J
authors.lastname: So
authors.affiliation: Genetics Program, North Bay Parry Sound District Health Unit, North Bay, Ontario, Canada.
authors.forename: Sharon
authors.initials: S
authors.lastname: Tung
authors.affiliation: Department of Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Marsha
authors.initials: M
authors.lastname: Speevak
authors.affiliation: Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, Laboratory Medicine and Pathobiology, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Dimitri J
authors.initials: DJ
authors.lastname: Stavropoulos
authors.affiliation: Division of Clinical and Metabolics Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Melissa T
authors.initials: MT
authors.lastname: Carter
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D056915:DNA Copy Number Variations / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D013577:Syndrome; D055815:Young Adult
keywords: 15q11.2; array CGH; autism; developmental delay; epilepsy; microdeletion