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Terms must have at least 4 characters before the first wildcard *. Wildcard ignored: *duplication*
Page 1
3q29 duplications: A cohort of 46 patients and a literature review.
Massier M, Doco-Fenzy M, Egloff M, Le Guillou X, Le Guyader G, Redon S, Benech C, Le Millier K, Uguen K, Ropars J, Sacaze E, Audebert-Bellanger S, Apetrei A, Molin A, Gruchy N, Vincent-Devulder A, Spodenkiewicz M, Jacquin C, Loron G, Thibaud M, Delplancq G, Brisset S, Lesieur-Sebellin M, Malan V, Romana S, Rio M, Marlin S, Amiel J, Marquet V, Dauriat B, Moradkhani K, Mercier S, Isidor B, Arpin S, Pujalte M, Jedraszak G, Pebrel-Richard C, Salaun G, Laffargue F, Boudjarane J, Missirian C, Chelloug N, Toutain A, Chiesa J, Keren B, Mignot C, Gouy E, Jaillard S, Landais E, Poirsier C. Massier M, et al. Am J Med Genet A. 2024 Jul;194(7):e63531. doi: 10.1002/ajmg.a.63531. Epub 2024 Feb 29. Am J Med Genet A. 2024. PMID: 38421086 Free article. Review.
We here report a French cohort of 31 families with a 3q29 duplication identified by chromosomal microarray analysis (CMA), including 14 recurrent 1.6 Mb duplications, eight overlapping duplications (>1 Mb), and nine small duplications (<1 Mb). ...
We here report a French cohort of 31 families with a 3q29 duplication identified by chromosomal microarray analysis (CMA), including …
3q29 microduplication syndrome: Clinical and molecular description of eleven new cases.
Coyan AG, Dyer LM. Coyan AG, et al. Eur J Med Genet. 2020 Dec;63(12):104083. doi: 10.1016/j.ejmg.2020.104083. Epub 2020 Oct 9. Eur J Med Genet. 2020. PMID: 33039685 Review.
A total of 16 individuals with the 3q29 duplication have been reported in the literature with clinical features that include intellectual disability, language delay, epilepsy, structural brain anomalies, micro/macrocephaly, generalized obesity, ocular abnormalities, distin …
A total of 16 individuals with the 3q29 duplication have been reported in the literature with clinical features that include intellec …
New phenotypes associated with 3q29 duplication syndrome: Results from the 3q29 registry.
Pollak RM, Zinsmeister MC, Murphy MM, Zwick ME; Emory 3q29 Project; Mulle JG. Pollak RM, et al. Am J Med Genet A. 2020 May;182(5):1152-1166. doi: 10.1002/ajmg.a.61540. Epub 2020 Mar 10. Am J Med Genet A. 2020. PMID: 32154651 Free PMC article.
3q29 duplication syndrome (3q29dup) is a rare genomic disorder caused by a 1.6 Mb duplication (GRCh38 chr3:195,998,000-197,623,000). ...Additionally, the rate of self-reported autism spectrum disorder diagnoses (39%) is substantially elevated compared to the general …
3q29 duplication syndrome (3q29dup) is a rare genomic disorder caused by a 1.6 Mb duplication (GRCh38 chr3:195,998,000-197,623 …
High level of complexity and global diversity of the 3q29 locus revealed by optical mapping and long-read sequencing.
Yilmaz F, Gurusamy U, Mosley TJ, Hallast P, Kim K, Mostovoy Y, Purcell RH, Shaikh TH, Zwick ME, Kwok PY, Lee C, Mulle JG. Yilmaz F, et al. Genome Med. 2023 May 10;15(1):35. doi: 10.1186/s13073-023-01184-5. Genome Med. 2023. PMID: 37165454 Free PMC article.
METHODS: We employed an optical genome mapping technique to characterize the 3q29 locus in 161 unaffected individuals, 16 probands with del3q29S and their parents, and 2 probands with the 3q29 duplication syndrome (dup3q29S). Long-read sequencing-based haplotype resolved d …
METHODS: We employed an optical genome mapping technique to characterize the 3q29 locus in 161 unaffected individuals, 16 probands with del3 …
3q29 microduplication syndrome: New evidence for the refinement of the critical region.
Bauleo A, Pace V, Montesanto A, De Stefano L, Brando R, Puntorieri D, Cento L, Genuardi M, Falcone E. Bauleo A, et al. Mol Genet Genomic Med. 2023 Apr;11(4):e2130. doi: 10.1002/mgg3.2130. Epub 2023 Jan 24. Mol Genet Genomic Med. 2023. PMID: 36691815 Free PMC article.
The proband had an additional intragenic duplication inherited from the unaffected father. Further testing was negative for Fragile X syndrome and for genes implicated in autism spectrum disorder and in neurodevelopmental disorders. ...The recognition of the clinical spect …
The proband had an additional intragenic duplication inherited from the unaffected father. Further testing was negative for Fragile X …
Delineation of the Genetic Architecture and Clinical Polymorphism of 3q29 Duplication Syndrome: A Review of the Literature and a Report of Two Novel Patients With Single-Gene BDH1 Duplications.
Kashevarova AA, Lopatkina ME, Vasilyeva OY, Fedotov DA, Lobanov AD, Fonova EA, Zhalsanova IZ, Zarubin AA, Salyukova OA, Belyaeva EO, Petrova VV, Ravzhaeva EG, Agafonova AA, Cheremnykh AD, Torkhova NB, Vovk SL, Lebedev IN. Kashevarova AA, et al. Mol Genet Genomic Med. 2025 Jan;13(1):e70047. doi: 10.1002/mgg3.70047. Mol Genet Genomic Med. 2025. PMID: 39739615 Free PMC article. Review.
BACKGROUND: Chromosome 3q29 duplication syndrome is a rare chromosomal disorder with a frequency of 1:5000 in patients with a neurodevelopmental phenotype. ...RESULTS: Here, we report five new patients with atypical duplications overlapping with the 3q29 duplication
BACKGROUND: Chromosome 3q29 duplication syndrome is a rare chromosomal disorder with a frequency of 1:5000 in patients with a neurode …
Adaptive behaviour deficits in individuals with 3q29 deletion syndrome.
Pollak RM, Burrell TL, Cubells JF, Klaiman C, Murphy MM, Saulnier CA, Walker EF, White SP, Mulle JG. Pollak RM, et al. J Intellect Disabil Res. 2024 Feb;68(2):113-127. doi: 10.1111/jir.13094. Epub 2023 Sep 22. J Intellect Disabil Res. 2024. PMID: 37740553 Free PMC article.
We explored the relationship between adaptive behaviour and cognitive function, executive function, and neurodevelopmental and neuropsychiatric comorbidities in our 3q29del study sample, and we compared subjects with 3q29del with published data on fragile X syndrome, 22q11.2 dele …
We explored the relationship between adaptive behaviour and cognitive function, executive function, and neurodevelopmental and neuropsychiat …
13 results