Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1

• Published in: Journal of medical genetics Vol. 44; no. 4; pp. 269 - 276
• Main Authors: Rajcan-Separovic, E, Harvard, C, Liu, X, McGillivray, B, Hall, J G, Qiao, Y, Hurlburt, J, Hildebrand, J, Mickelson, E C R, Holden, J J A, Lewis, M E S
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01.04.2007; BMJ; BMJ Publishing Group LTD; BMJ Group
• Subjects: Abnormalities, Multiple - genetics; ADHD; ADOS-G; array CGH; array comparative genomic hybridisation; ASD; Attention Deficit Disorder with Hyperactivity - genetics; attention deficit hyperactivity disorder; Autism; Autism Diagnostic Observation Schedule; autism spectrum disorder; Autistic Disorder - genetics; Biological and medical sciences; Brain - abnormalities; Canadian Institutes for Health Research; Child; chromosome 2p; Chromosome Deletion; Chromosome Disorders - genetics; Chromosome Disorders - pathology; Chromosomes; Chromosomes, Human, Pair 2 - genetics; Chromosomes, Human, Pair 2 - ultrastructure; CIHR; Classical genetics, quantitative genetics, hybrids; Cloning; Craniofacial Abnormalities - genetics; Female; FISH; fluorescence in situ hybridisation; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Generic; Genetics of eukaryotes. Biological and molecular evolution; Genomes; Genomics; Healthcare Equity for Intellectually Disabled Individuals; HEIDI; Human; Humans; In Situ Hybridization, Fluorescence; Infant, Newborn; Intellectual disabilities; intellectual disability; intrapupillary distance; intrauterine growth retardation; IPD; IUGR; Kidney - abnormalities; Letter to JMG; magnetic resonance imaging; Male; Medical genetics; Medical sciences; microdeletion syndrome; Molecular and cellular biology; MRI; Nucleic Acid Hybridization; OCD; outer canthal distance; Phenotype; Syndrome; X linked mental retardation; X-MR; Genetic mapping; Human; Cytogenetics; Microdeletion; Genetics; Syndrome

Background: During whole genome microarray-based comparative genomic hybridisation (array CGH) screening of subjects with idiopathic intellectual disability, we identified two unrelated individuals with a similar de novo interstitial microdeletion at 2p15-2p16.1. Both individuals share a similar cli...