16p11.2-p12.2 duplication syndrome; a genomic condition differentiated from euchromatic variation of 16p11.2
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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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Deletions and duplications of 16p11.2 have highly pleiotropic phenotypic effects, with strong links to ASD, ID, motor/developmental delay, dysmorphic features, and epilepsy/seizures.
“Deletions and duplications of 16p11.2 have highly pleiotropic phenotypic effects, with strong links to ASD [8–19], ID [8, 10, 12, 14–16, 19–21], motor/developmental delay [8–10, 12, 13, 15–19, 22], dysmorphic features [8, 12, 16, 17, 22], and epilepsy/seizures [10, 12, 17].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [8]
The human 16p11.2 locus is a roughly 500-600 kb region containing 27-29 genes on the proximal short arm of chromosome 16.
“The human 16p11.2 gene locus (chromosome 16, position 11.2) is a ~500–600 kb region containing 27–29 genes [4–7] located on the proximal short arm of chromosome 16 [8].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [8]
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Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0017
Autosomal Structural Rearrangements
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0014
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0020
Down Syndrome, Other Full Aneuploidies, Polyploidy, and the Influence of Parental Age
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0013
Complex Chromosomal Rearrangements
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0010
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0012
Roubertoux, P. L., & Carlier, M. (2016) · Springer eBooks · doi:10.1007/978-1-4939-3777-6_5
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0002
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0019
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.003.0008
Prenatal diagnosis of a 16p11.2p11.1 mosaic small supernumerary marker chromosome (sSMC)Preprint
Tidrenczel, Z., Tardy, E. P., Pikó, H., Sarkadi, E., Böjtös, I., Vermes, G., Demeter, J., Kosa, J. P., & Beke, A. (2019) · doi:10.21203/rs.2.19367/v1
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Hayes, C., Halverson, H. E., Keeran, K., Tison, K., Jacobo, K., Karki, A., Herring, I., Tunuguntla, S., Pace, M., Doan, B., et al. (2023) · bioRxiv (Cold Spring Harbor Laboratory) · doi:10.1101/2023.11.20.565320
СІМЕЙНИЙ ВИПАДОК СИНДАКТИЛІЇ ТА КЛИНОДАКТИЛІЇ ПАЛЬЦІВ НИЖНІХ КІНЦІВОК
Процайло, М. Д., Свистун, Р., Коник, Т., Воронцова, Т., Ярема, Н., & Прокопович, О. (2024) · Перспективи та інновації науки · doi:10.52058/2786-4952-2024-12(46)-1786-1797
cYtogenetic Abbreviations and Nomenclature
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.005.0002
Ideograms of Human Chromosomes, and Haploid Autosomal Lengths
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.005.0001
(2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.002.0006
(2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.002.0007
(2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.002.0005
(2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.002.0004
Determining 95 Percent Confidence Limits, and the Standard Error
Gardner, R. J. M., & Amor, D. J. (2018) · Oxford University Press eBooks · doi:10.1093/med/9780199329007.005.0003
Derhourhi, M. (2018) · theses.fr (ABES) · doi:10.70675/2d396fe9z564dz48a1z89b4z746f99df764e
Clinical spectrum and treatment responses in
Xiao, X., Chen, X., Zheng, H., Xiong, M., Liu, Y., Jiang, L., & Hu, Y. (2026) · Neurological Sciences · doi:10.1007/s10072-026-09036-x
- Authors
- Barber, J. C. K., Hall, V., Maloney, V. K., Huang, S., Roberts, A. M., Brady, A. F., Foulds, N., Bewes, B., Volleth, M., Liehr, T., Mehnert, K., Bateman, M., & White, H.
- Affiliations
- Southampton General Hospital (GB)
- Salisbury NHS Foundation Trust (GB)
- Wessex Regional Genetics Laboratory (GB)
- St Mark's Hospital (GB)
- Princess Anne Hospital (GB)
- Otto-von-Guericke-Universität Magdeburg (DE)
- Jena University Hospital (DE)
- Genetikum (DE)
- Corresponding author
- Barber, John C K
- Venue
- European Journal of Human Genetics
- Published
- 2012-07-25
- Volume
- 21
- Issue
- 2
- Pages
- 182-189
- ISSN
- 1018-4813 (ISSN-L)
- 1476-5438
- PMC
- PMC3548261
- OpenAlex
- W2051484364
- Cited by
- 74
- References
- 36
- Citations by year
- 2026: 1 · 2025: 4 · 2024: 1 · 2023: 2 · 2022: 1 · 2020: 2 · 2019: 3 · 2018: 37 · 2017: 4 · 2016: 8 · 2015: 2 · 2014: 1 · 2013: 8
- FWCI
- 2.11
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- European Journal of Human Genetics (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- ePrints Soton (University of Southampton) (submittedVersion)
- Funders
- National Institute for Health and Care Research
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- genomic disorders, immunoglobulin heavy chain locus, autism spectrum disorder, intellectual disability, short stature, dysmorphic features, developmental delay
- MeSH terms
- Abnormalities, Multiple, Polo-Like Kinase 1, Adolescent, Adult, Autistic Disorder, Child, Developmental Disabilities, Child, Preschool, Chromosomes, Human, Pair 16, Female, Humans, Infant, Language Development Disorders, Male, Intellectual Disability, Phenotype, Proto-Oncogene Proteins, Genome, Human, Protein Serine-Threonine Kinases, Cell Cycle Proteins, DNA Copy Number Variations, Chromosome Duplication
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