ArticleEuropean journal of human genetics : EJHG2013
16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2.
Article in European journal of human genetics : EJHG, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20 citing papers in PubMed, 73 citations in OpenAlex.
- Shared Genetic Networks in Schizophrenia and Bipolar Disorder: Hippocampal Volume-Mediated Neurobiological Mechanisms.Schizophrenia bulletin · 2026Article
- Clinical spectrum and treatment responses in.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Unraveling the Genetic and Molecular Architecture of Autism Spectrum Disorder: Implications for Clinical Genetics and Genomic Diagnostics.International journal of molecular sciences · 2026Review
- Structural variation, selection, and diversification of the NPIP gene family from the human pangenome.Cell genomics · 2025Article
- Approach to Macrodactyly: A Case Report and Diagnostic Algorithm for Syndromic and Isolated Forms.Pediatric reports · 2025Article
- Article
- Genetic interaction between PLK1 and downstream MCPH proteins in the control of centrosome asymmetry and cell fate during neural progenitor division.Cell death and differentiation · 2022Article
- Reversal of synaptic and behavioral deficits in a 16p11.2 duplication mouse model via restoration of the GABA synapse regulator Npas4.Molecular psychiatry · 2021Article
- 16p11.2 Copy Number Variations and Neurodevelopmental Disorders.Trends in neurosciences · 2020Review
- Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia.Molecular psychiatry · 2020Article
- The effect of copy number variations in chromosome 16p on body weight in patients with intellectual disability.Journal of human genetics · 2019Article
- Genetic risk for schizophrenia and developmental delay is associated with shape and microstructure of midline white-matter structures.Translational psychiatry · 2019Article
- Genetic Causes and Modifiers of Autism Spectrum Disorder.Frontiers in cellular neuroscience · 2019Review
- Microarray analysis in pregnancies with isolated unilateral kidney agenesis.Pediatric research · 2018Article
- Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome.Molecular neurobiology · 2017Article
- Microduplication of the ARID1A gene causes intellectual disability with recognizable syndromic features.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdens.Scientific reports · 2016Article
- Integrated small copy number variations and epigenome maps of disorders of sex development.Human genome variation · 2016Article
- Expansion of a 12-kb VNTR containing the REXO1L1 gene cluster underlies the microscopically visible euchromatic variant of 8q21.2.European journal of human genetics : EJHG · 2014Article
- Decision making for seriously compromised newborns: the importance of exploring cultural differences and unintended consequences.Journal of perinatology : official journal of the California Perinatal Association · 2013Article
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Authors and funding
13 authors at 8 institutions in 2 countries.
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Abstract
Chromosome 16 contains multiple copy number variations (CNVs) that predispose to genomic disorders. Here, we differentiate pathogenic duplications of 16p11.2-p12.2 from microscopically similar euchromatic variants of 16p11.2. Patient 1 was a girl of 18 with autism, moderate intellectual disability, behavioural difficulties, dysmorphic features and a 7.71-Mb (megabase pair) duplication (16:21 521 005-29 233 146). Patient 2 had a 7.81-Mb duplication (16:21 382 561-29 191 527), speech delay and obsessional behaviour as a boy and, as an adult, short stature, macrocephaly and mild dysmorphism. The duplications contain 65 coding genes of which Polo-like kinase 1 (PLK1) has the highest likelihood of being haploinsufficient and, by implication, a triplosensitive gene. An additional 1.11-Mb CNV of 10q11.21 in Patient 1 was a possible modifier containing the G-protein-regulated inducer of neurite growth 2 (GPRIN2) gene. In contrast, the euchromatic variants in Patients 3 and 4 were amplifications from a 945-kb region containing non-functional immunoglobulin heavy chain (IGHV), hect domain pseudogene (HERC2P4) and TP53-inducible target gene 3 (TP53TG3) loci in proximal 16p11.2 (16:31 953 353-32 898 635). Paralogous pyrosequencing gave a total copy number of 3-8 in controls and 8 to >10 in Patients 3 and 4. The 16p11.2-p12.2 duplication syndrome is a recurrent genomic disorder with a variable phenotype including developmental delay, dysmorphic features, mild to severe intellectual disability, autism, obsessive or stereotyped behaviour, short stature and anomalies of the hands and fingers. It is important to differentiate pathogenic 16p11.2-p12.2 duplications from harmless, microscopically similar euchromatic variants of proximal 16p11.2, especially at prenatal diagnosis.
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