articleTop 1% cited
Microdeletion/duplication at 15q13.2q13.3 among individuals with features of autism and other neuropsychiatric disorders
Journal of Medical Genetics · 2008 · Vol. 46(4) · pp. 242–248
David T. Miller(Autism Consortium)Yiping Shen(Boston Children's Hospital)Lauren A. Weiss(Broad Institute)Joshua M. Korn(Center for Human Genetics)Irina Anselm(Harvard University)Carolyn Bridgemohan(Boston Children's Hospital)Gerald F. Cox(Harvard University)Helen Dickinson(Boston Children's Hospital)James E. Gentile(Boston Children's Hospital)David J. Harris(Boston Children's Hospital)Vishwajit Hegde(Harvard University)Rachel J. Hundley(Boston Children's Hospital)Omar Khwaja(Harvard University)Sanjeev V. Kothare(Harvard University)Christina Luedke(Harvard University)Ramzi Nasir(Boston Children's Hospital)Annapurna Poduri(Harvard University)Konasale M. Prasad(Boston Children's Hospital)Peter Raffalli(Harvard University)Antoine Reinhard(Boston Children's Hospital)Stephen Smith(Harvard University)Magdi M. Sobeih(Harvard University)Janet S. Soul(Harvard University)Joan M. Stoler(Harvard University)Masanori Takeoka(Harvard University)Wen‐Hann Tan(Boston Children's Hospital)Joseph V. Thakuria(Boston Children's Hospital)Robert R. Wolff(Boston Children's Hospital)RAMIL I. YUSUPOV(Harvard University)James F. Gusella(Center for Human Genetics)Mark J. Daly(Autism Consortium)B-L Wu✉(Boston Children's Hospital)
Abstract
The phenotype of chromosome 15q13.2q13.3 BP4-BP5 microdeletion/duplication syndrome may include features of autism spectrum disorder, a variety of neuropsychiatric disorders, and cognitive impairment. Recognition of this broader phenotype has implications for clinical diagnostic testing and efforts to understand the underlying aetiology of this syndrome.
Genomic variations and chromosomal abnormalitiesCongenital heart defects researchChromosomal and Genetic VariationsGene duplicationCopy-number variationAutismAutism spectrum disorderGene dosageEpilepsyIntellectual disabilityGeneticsPsychologyMedicine
MeSH terms
AdolescentAutistic DisorderChildChild, PreschoolChromosome AberrationsChromosome DeletionChromosomes, Human, Pair 15FemaleHumansInfantMaleIntellectual DisabilityPhenotypeGene DuplicationComparative Genomic Hybridization
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References
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The genetics of autistic disorders and its clinical relevance: a review of the literature
Molecular Psychiatry · 2006 · 628 citations
Microarray based comparative genomic hybridisation (array-CGH) detects submicroscopic chromosomal deletions and duplications in patients with learning disability/mental retardation and dysmorphic features
Journal of Medical Genetics · 2004 · 508 citations
Structural Variation of Chromosomes in Autism Spectrum Disorder
The American Journal of Human Genetics · 2008 · 1,832 citations
Recurrent 16p11.2 microdeletions in autism
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