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Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications
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Microdeletions and microduplications encompassing a ~593-kb region of 16p11.2 have been implicated as one of the most common genetic causes of susceptibility to autism/autism spectrum disorder (ASD). We report 45 microdeletions and 32 microduplications of 16p11.2, representing 0.78% of 9,773 individuals referred to our laboratory for microarray-based comparative genomic hybridization (aCGH) testing for neurodevelopmental and congenital anomalies. The microdeletion was de novo in 17 individuals and maternally inherited in five individuals for whom parental testing was available. Detailed histories of 18 individuals with 16p11.2 microdeletions were reviewed; all had developmental delays with below-average intelligence, and a majority had speech or language problems or delays and various behavioral problems. Of the 16 individuals old enough to be evaluated for autism, the speech/behavior profiles of seven did not suggest the need for ASD evaluation. Of the remaining nine individuals who had speech/behavior profiles that aroused clinical suspicion of ASD, five had formal evaluations, and three had PDD-NOS. Of the 19 microduplications with parental testing, five were de novo, nine were maternally inherited, and five were paternally inherited. A majority with the microduplication had delayed development and/or specific deficits in speech or language, though these features were not as consistent as seen with the microdeletions. This study, which is the largest cohort of individuals with 16p11.2 alterations reported to date, suggests that 16p11.2 microdeletions and microduplications are associated with a high frequency of cognitive, developmental, and speech delay and behavior abnormalities. Furthermore, although features associated with these alterations can be found in individuals with ASD, additional factors are likely required to lead to the development of ASD.
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“Genetic screenings of ASD patients repeatedly identify 16p11.2 deletions & duplications, placing them among the strongest genetic risk factors for ASD [11, 13, 16, 38].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [16]
In the citing paper
“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 [16]
In the citing paper
“Deletions of 16p11.2 are associated with increased head circumference (macrocephaly) [10, 12, 17, 23] and obesity [10, 12, 16, 20], whereas duplications often result in below average head size (microcephaly) [10, 17, 23, 24] and low body weight/BMI [10, 24].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [16]
In the citing paper
“Data compiled from eight studies [13, 15–17, 20, 24, 26, 33] screening individuals with either ASD, ID, developmental delay (DD), dysmorphic features (DF), multiple congenital anomalies (MCA), obesity, or seizures find 16p11.2 deletions at rates of 0.25–2.9%, and duplications at rates between 0.15–0.78% (Table 1).”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [16]
In the citing paper
“Epilepsy/seizures ranks among the most common phenotypes observed in both 16p11.2 deletions and duplications [10, 12, 16, 17, 33, 36] (Table 2).”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [16]
In the citing paper
“Duplications are similarly associated with speech articulation abnormalities [36], speech delay [17, 19], and language deficits [16].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [16]
In the citing paper
“Attention-deficit/hyperactivity disorder (ADHD) is also observed in 16p11.2 CNV carriers [12, 15–17, 19, 23, 48], at rates as high as 29% (63/217) and 42% (48/114) in deletion and duplication carriers, respectively [34].”
From 16p11.2 Copy Number Variations and Neurodevelopmental Disorders (2020) · cites this paper as [16]
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Citations
Cites
Strong association of de novo copy number mutations with autism
Sebat, J., Lakshmi, B., Malhotra, D., Troge, J., Lese-Martin, C., Walsh, T., Yamrom, B., Yoon, S., Krasnitz, A., Kendall, J., et al. (2007) · Science · doi:10.1126/science.1138659 · Cited by 2,795
Advances in autism genetics: on the threshold of a new neurobiology
Abrahams, B. S., & Geschwind, D. H. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2346 · Cited by 1,866
Structural Variation of Chromosomes in Autism Spectrum Disorder
Marshall, C. R., Noor, A., Vincent, J. B., Lionel, A. C., Feuk, L., Skaug, J., Shago, M., Moessner, R., Pinto, D., Ren, Y., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.12.009 · Cited by 1,815 · cited 24×
“While some patients have dysmorphic features, others are specifically nondysmorphic (Kumar et al. 2008; Weiss et al. 2008; Marshall et al. 2008; Ghebranious et al. 2007; Rosenberg et al. 2006; Bijlsma et al. 2009; Fernandez et al. 2009), and there is no recognizable facial gestalt.”
BackgroundResultInfluentialRare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia
Walsh, T., McClellan, J. M., McCarthy, S. E., Addington, A. M., Pierce, S. B., Cooper, G. M., Nord, A. S., Kusenda, M., Malhotra, D., Bhandari, A., et al. (2008) · Science · doi:10.1126/science.1155174 · Cited by 1,800
Self-citationAssociation between Microdeletion and Microduplication at 16p11.2 and Autism
Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Saemundsen, E., Stefansson, H., Ferreira, M. A. R., Green, T., et al. (2008) · New England Journal of Medicine · doi:10.1056/nejmoa075974 · Cited by 1,666
Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
Glessner, J. T., Wang, K., Cai, G., Korvatska, O., Kim, C. E., Wood, S., Zhang, H., Estes, A., Brune, C. W., Bradfield, J. P., et al. (2009) · Nature · doi:10.1038/nature07953 · Cited by 1,421
Lupski, J. R. (1998) · Trends in Genetics · doi:10.1016/s0168-9525(98)01555-8 · Cited by 908
Prevalence Estimation of Williams Syndrome
Strømme, P., Bjømstad, P. G., & Ramstad, K. (2002) · Journal of Child Neurology · doi:10.1177/088307380201700406 · Cited by 779
Recurrent 16p11.2 microdeletions in autism
Kumar, R. A., KaraMohamed, S., Sudi, J., Conrad, D. F., Brune, C., Badner, J. A., Gilliam, T. C., Nowak, N. J., Cook, E. H., Dobyns, W. B., et al. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm376 · Cited by 731
Association Between Microdeletion and Microduplication at 16p11.2 and Autism
Weiss, L. A., Shen, Y., Korn, J. M., Arking, D. E., Miller, D. T., Fossdal, R., Sæmundsen, E., Stefánsson, H., Ferreira, M. A. R., Green, T. J., et al. (2008) · Obstetrical & Gynecological Survey · doi:10.1097/01.ogx.0000316305.61461.6f · Cited by 647
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Xie, X., Wu, X., Su, L., Cai, M., Li, Y., Huang, H., & Xu, L. (2021) · International Journal of General Medicine · doi:10.2147/ijgm.s323899 · Cited by 12
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Smith, D. G., & Ehlers, M. (2012) · Current Opinion in Neurobiology · doi:10.1016/j.conb.2012.03.004 · Cited by 10
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Liu, N., Li, H., Li, M., Gao, Y., & Yan, H. (2022) · Clinica Chimica Acta · doi:10.1016/j.cca.2022.10.016 · Cited by 11
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Lengyel, A., Pinti, É., Pikó, H., Jávorszky, E., David, D., Tihanyi, M., Gönczi, É., Kiss, E., Tóth, Z., Tory, K., et al. (2020) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2020.104027 · Cited by 8
Su, K., Liu, H., Ye, X., Jin, H., Xie, Z., Yang, C., Zhou, D., Huang, H., & Wu, Y. (2023) · Molecular Genetics & Genomic Medicine · doi:10.1002/mgg3.2280 · Cited by 6
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Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0028
Self-citationGardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0012
Self-citationGardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0002
Self-citationchromosome abnormalities detected at prenatal diagnosis
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.003.0027
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Zhang, X., Ward, T., Leung, L. C., Qu, P.-P., Zhou, B., Muench, K. L., Khechaduri, A., Plastini, M. J., Charlton, C. A., Pattni, R., et al. (2023) · Research Square · doi:10.21203/rs.3.rs-3152672/v1
Guadagnolo, D., Mastromoro, G., Torres, B., Marchionni, E., Palma, F. D., Goldoni, M., Cocciadiferro, D., Novelli, A., Bernardini, L., & Pizzuti, A. (2023) · Genes · doi:10.3390/genes14122157
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Modi, A., Blauel, E. R., & Diskin, S. J. (2024) · Pediatric oncology · doi:10.1007/978-3-031-51292-6_3
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Cai, M., Gao, Y., Xue, H., Fu, X., Cao, H., Xu, L., Lin, N., & Huang, H. (2025) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-025-03970-3
(2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.002.0007
(2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.002.0004
(2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.002.0005
(2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.002.0008
Cytogenetic Abbreviations and Nomenclature
Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.005.0272
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Gardner, R. J. M., Sutherland, G. R., & Shaffer, L. G. (2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.005.0273
Self-citation(2011) · Oxford University Press eBooks · doi:10.1093/med/9780195375336.002.0006
Metadata
- Authors
- Rosenfeld, J. A., Coppinger, J., Bejjani, B. A., Girirajan, S., Eichler, E. E., Shaffer, L. G., & Ballif, B. C.
- Affiliations
- University of Washington (US)
- Corresponding author
- Ballif, Blake C.
- Venue
- Journal of Neurodevelopmental Disorders
- Published
- 2009-11-12
- Volume
- 2
- Issue
- 1
- Pages
- 26-38
- ISSN
- 1866-1947 (ISSN-L)
- 1866-1955
- PMC
- PMC3125720
- OpenAlex
- W2004075871
- Cited by
- 207
- References
- 24
- Citations by year
- 2026: 4 · 2025: 6 · 2024: 10 · 2023: 9 · 2022: 8 · 2021: 9 · 2020: 15 · 2019: 11 · 2018: 8 · 2017: 11 · 2016: 6 · 2015: 10 · 2014: 12 · 2013: 13 · 2012: 18
- FWCI
- 37.48
- Type
- book chapter
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- Journal of Neurodevelopmental Disorders (publishedVersion, cc-by)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Howard Hughes Medical Institute
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD065285)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genome Rearrangement Algorithms
- Keywords
- 16p11.2 microdeletion, developmental delay, speech delay, language delay, behavioral problems, autism spectrum disorder, intellectual disability, de novo copy number variation, parental inheritance, pervasive developmental disorder not otherwise specified, neurodevelopmental disorders
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Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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