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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 …
3q29 duplication syndrome (3q29dup) is a rare genomic disorder caused by a 1.6 Mb duplication (GRCh38 chr3:195,998,000- …
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.
Duplications of the 3q29 cytoband are rare chromosomal copy number variations (CNVs) (overlapping or recurrent ~1.6 Mb 3q29 duplications). ...The smallest region of overlap and the phenotype of 3q29 duplications remain uncertain. We here …
Duplications of the 3q29 cytoband are rare chromosomal copy number variations (CNVs) (overlapping or recurrent ~1.6 Mb 3q29 …
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.
RESULTS: Here, we report five new patients with atypical duplications overlapping with the 3q29 duplication syndrome region and no other genetic findings. In two patients, duplications were found in the single BDH1 gene, a candidate gene for the 3q2 …
RESULTS: Here, we report five new patients with atypical duplications overlapping with the 3q29 duplication syndrome re …
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.
Interstitial duplications of 3q29 have recently been described in association with a new genetic syndrome characterized by a neurodevelopmental phenotype. A total of 16 individuals with the 3q29 duplication have been reported in the literature with cli …
Interstitial duplications of 3q29 have recently been described in association with a new genetic syndrome characterized by a n …
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.
Montanucci L, Lewis-Smith D, Collins RL, Niestroj LM, Parthasarathy S, Xian J, Ganesan S, Macnee M, Brünger T, Thomas RH, Talkowski M; Epi25 Collaborative; Helbig I, Leu C, Lal D. Montanucci L, et al. Nat Commun. 2023 Jul 20;14(1):4392. doi: 10.1038/s41467-023-39539-6. Nat Commun. 2023. PMID: 37474567 Free PMC article.
With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from 10,590 individuals with seizure disorders, 16,109 individuals with clinically validated epilepsy, and 492,324 population controls and identified 25 genome-wide significant loci, 22 of w …
With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from 10,590 individuals with seizure disorders, 16 …
Phenotype Heterogeneity in 3q29 Microduplication Syndrome.
Streata I, Riza AL, Sosoi S, Burada F, Ioana M. Streata I, et al. Curr Health Sci J. 2020 Apr-Jun;46(2):193-197. doi: 10.12865/CHSJ.46.02.14. Epub 2020 Jun 30. Curr Health Sci J. 2020. PMID: 32874693 Free PMC article.
3q29 microduplication syndrome is characterized by widely variable clinical presentation, but generally mild features. ...We describe a clinical case with a 1.65Mb duplication at 3q29 (chr3:195,979,518-197,638,922, GRCh37) identified by aCGH. The uncharacteri …
3q29 microduplication syndrome is characterized by widely variable clinical presentation, but generally mild features. ...We describe …
[3q29 microduplication syndrome].
Aleixandre Blanquer F, Manchón Trives I, Forniés Arnau MJ, Alcaraz Mas LA, Picó Alfonso N, Galán Sánchez F. Aleixandre Blanquer F, et al. An Pediatr (Barc). 2011 Dec;75(6):409-12. doi: 10.1016/j.anpedi.2011.08.002. Epub 2011 Oct 5. An Pediatr (Barc). 2011. PMID: 21982553 Free article. Spanish.
3q29 microduplication (MIM 611936) is rare syndrome characterized by moderate mental retardation, craniofacial dysmorphic features and musculoskeletal anomalies. ...It is flanked by repetitive sequences and it is similar in size to the reciprocal 3q29 microdeletion, …
3q29 microduplication (MIM 611936) is rare syndrome characterized by moderate mental retardation, craniofacial dysmorphic features an …
[Developmental disorders].
Kushima I, Okada T, Ozaki N. Kushima I, et al. Brain Nerve. 2012 Feb;64(2):139-47. Brain Nerve. 2012. PMID: 22308259 Review. Japanese.
Recent genetic studies have detected copy number variants (CNVs; e.g., deletions on 1q21.1, 3q29, and 22q.11.21 and duplications on 16p11.2) as shared genetic factors for PDD, mental retardation, and schizophrenia. ...
Recent genetic studies have detected copy number variants (CNVs; e.g., deletions on 1q21.1, 3q29, and 22q.11.21 and duplications …
Prenatal detection of a 3q29 microdeletion in a fetus with ventricular septum defect: A case report and literature review.
Yue F, Deng S, Xi Q, Jiang Y, He J, Zhang H, Liu R. Yue F, et al. Medicine (Baltimore). 2021 Jan 8;100(1):e24224. doi: 10.1097/MD.0000000000024224. Medicine (Baltimore). 2021. PMID: 33429816 Free PMC article. Review.
However, SNP array detected a 1.71 Mb microdelection in 3q29, which was described as arr[hg19]3q29(194184392-195887205) 1. There are 12 genes located in this locus. ...In addition, no similar/overlapping 3q29 microdeletion cases were reported according to the …
However, SNP array detected a 1.71 Mb microdelection in 3q29, which was described as arr[hg19]3q29(194184392-195887205) 1. The …
64 results