articleTop 1% cited

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Journal of Medical Genetics · 2009 · Vol. 47(5) · pp. 332–341

Marwan Shinawi(Texas Children's Hospital)P. Liu(Baylor College of Medicine)Sung Hae L. Kang(Baylor College of Medicine)Joseph Shen(Children's Hospital Central California)John W. Belmont(Baylor College of Medicine)Daryl A. Scott(Baylor College of Medicine)Frank J. Probst(Baylor College of Medicine)W. J. Craigen(Baylor College of Medicine)Brett H. Graham(Baylor College of Medicine)Amber N. Pursley(Texas Children's Hospital)G Clark(Texas Children's Hospital)Jinyoung Lee(Texas Children's Hospital)Monica B. Proud(Texas Children's Hospital)A. Stocco(Texas Children's Hospital)Diana L. Rodríguez(Texas Children's Hospital)Beth A. Kozel(Washington University in St. Louis)Steven Sparagana(The University of Texas Southwestern Medical Center)Elizabeth Roeder(The University of Texas Health Science Center at San Antonio)Susan G. McGrew(Monroe Carell Jr. Children's Hospital)Thaddeus W. Kurczynski(Akron Children's Hospital)Lesley AllisonStephen Amato(Eastern Maine Medical Center)Sarah Savage(Eastern Maine Medical Center)Ankita Patel(Baylor College of Medicine)Paweł Stankiewicz(Baylor College of Medicine)Arthur L. Beaudet(Texas Children's Hospital)S.W. Cheung✉(Baylor College of Medicine)James R. Lupski(Baylor College of Medicine)

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Abstract

Recurrent reciprocal 16p11.2 deletion and duplication are characterised by a spectrum of primarily neurocognitive phenotypes that are subject to incomplete penetrance and variable expressivity. The autism and macrocephaly observed with deletion and ADHD and microcephaly seen in duplication patients support a diametric model of autism spectrum and psychotic spectrum behavioural phenotypes in genomic sister disorders.

Genomic variations and chromosomal abnormalities Congenital heart defects research Congenital Ear and Nasal AnomaliesGene duplicationSpeech delayMicrocephalyAutismMacrocephalyIntellectual disabilityCopy-number variationGlobal developmental delayGeneticsEpilepsy

MeSH terms

Abnormalities, MultipleAdolescentAttention Deficit Disorder with HyperactivityAutistic DisorderChildDevelopmental DisabilitiesChild, PreschoolChromosome AberrationsChromosome DeletionChromosomes, Human, Pair 16EpilepsyFemaleHumansInfantLanguage Development Disorders

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