title: Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.
abstract: Copy number variation (CNV) in the long arm of chromosome 2 has been implicated in developmental delay (DD), intellectual disability (ID), autism spectrum disorder (ASD), congenital anomalies, and psychiatric disorders. Here we describe 14 new subjects with recurrent deletions and duplications of chromosome 2q11.2, 2q13, and 2q11.2-2q13. Though diverse phenotypes are associated with these CNVs, some common features have emerged. Subjects with 2q11.2 deletions often exhibit DD, speech delay, and attention deficit hyperactivity disorder (ADHD), whereas those with 2q11.2 duplications have DD, gastroesophageal reflux, and short stature. Congenital heart defects (CHDs), hypotonia, dysmorphic features, and abnormal head size are common in those with 2q13 deletions. In the 2q13 duplication cohort, we report dysmorphic features, DD, and abnormal head size. Two individuals with large duplications spanning 2q11.2-2q13 have dysmorphic features, hypotonia, and DD. This compilation of clinical features associated with 2q CNVs provides information that will be useful for healthcare providers and for families of affected children. However, the reduced penetrance and variable expressivity associated with these recurrent CNVs makes genetic counseling and prediction of outcomes challenging. © 2015 Wiley Periodicals, Inc.
authors.affiliation: Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.|Department of Cytogenetics, Laboratory Corporation of America Holdings, Center for Molecular Biology and Pathology, Research Triangle Park, North Carolina.
authors.forename: Kacie N
authors.initials: KN
authors.lastname: Riley
authors.affiliation: Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.
authors.forename: Lisa M
authors.initials: LM
authors.lastname: Catalano
authors.affiliation: Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan.
authors.forename: John A
authors.initials: JA
authors.lastname: Bernat
authors.affiliation: Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan.
authors.forename: Stacie D
authors.initials: SD
authors.lastname: Adams
authors.affiliation: Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan.|Department of Human Genetics, University of Michigan, Ann Arbor, Michigan.
authors.forename: Donna M
authors.initials: DM
authors.lastname: Martin
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
authors.forename: Seema R
authors.initials: SR
authors.lastname: Lalani
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
authors.forename: Ankita
authors.initials: A
authors.lastname: Patel
authors.affiliation: Department of Cytogenetics, Laboratory Corporation of America Holdings, Center for Molecular Biology and Pathology, Research Triangle Park, North Carolina.
authors.forename: Rachel D
authors.initials: RD
authors.lastname: Burnside
authors.affiliation: Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, Michigan.|Department of Human Genetics, University of Michigan, Ann Arbor, Michigan.
authors.forename: Jeffrey W
authors.initials: JW
authors.lastname: Innis
authors.affiliation: Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.
authors.forename: M Katharine
authors.initials: MK
authors.lastname: Rudd
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D058674:Chromosome Duplication; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D056915:DNA Copy Number Variations / Q000235:genetics; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D010375:Pedigree
keywords: 2q11.2 deletion; 2q11.2 duplication; 2q13 deletion; 2q13 duplication; FBLN7; TMEM87B; recurrent CNV