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Quoted phrase not found in phrase index: "Chromosome 3q29 microduplication syndrome"
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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. ...In this paper, we summarize the current literature and present eleven additional cases from nine families wi …
Interstitial duplications of 3q29 have recently been described in association with a new genetic syndrome characterized by a n …
Siblings with phenotypic overlap with Toriello-Carey syndrome and complex cytogenetic imbalances including 3q29 microduplication and 6p25 microdeletion: Review of the literature and additional evidence for genetic heterogeneity.
McGoey R, Varma A, Lacassie Y. McGoey R, et al. Am J Med Genet A. 2010 Dec;152A(12):3068-73. doi: 10.1002/ajmg.a.33721. Am J Med Genet A. 2010. PMID: 21108391 Review.
Toriello-Carey syndrome (TCS) is a multiple congenital anomaly syndrome of unknown etiopathogenesis with characteristic findings including corpus callosum defects, minor facial dysmorphisms, mental retardation, postnatal growth delays, cardiac defects, limb anomalie …
Toriello-Carey syndrome (TCS) is a multiple congenital anomaly syndrome of unknown etiopathogenesis with characteristic findin …
A de novo proximal 3q29 chromosome microduplication in a patient with oculo auriculo vertebral spectrum.
Guida V, Sinibaldi L, Pagnoni M, Bernardini L, Loddo S, Margiotti K, Digilio MC, Fadda MT, Dallapiccola B, Iannetti G, Alessandro de L. Guida V, et al. Am J Med Genet A. 2015 Apr;167A(4):797-801. doi: 10.1002/ajmg.a.36951. Epub 2015 Mar 3. Am J Med Genet A. 2015. PMID: 25735547
A SNP-array analysis identified a de novo previously unreported microduplication spanning 723 Kb on chromosome 3q29. This rearrangement was proximal to the 3q29 microdeletion/microduplication syndrome region, and encompassed nine genes in …
A SNP-array analysis identified a de novo previously unreported microduplication spanning 723 Kb on chromosome 3q29. Th …
Cerebral palsy, epilepsy, and severe intellectual disability in a patient with 3q29 microduplication syndrome.
Fernández-Jaén A, Castellanos Mdel C, Fernández-Perrone AL, Fernández-Mayoralas DM, de la Vega AG, Calleja-Pérez B, Fernández EC, Albert J, Hombre MC. Fernández-Jaén A, et al. Am J Med Genet A. 2014 Aug;164A(8):2043-7. doi: 10.1002/ajmg.a.36559. Epub 2014 May 16. Am J Med Genet A. 2014. PMID: 24838842
Interstitial microduplication of 3q29 has been recently described. Individuals with this syndrome have widely variable phenotypes. We describe the first clinical case with a 1.607 Mb duplication at 3q29 (chr3: 195,731,956-197,339,329), accompanied by s …
Interstitial microduplication of 3q29 has been recently described. Individuals with this syndrome have widely variable …
3q29 interstitial microduplication: a new syndrome in a three-generation family.
Lisi EC, Hamosh A, Doheny KF, Squibb E, Jackson B, Galczynski R, Thomas GH, Batista DA. Lisi EC, et al. Am J Med Genet A. 2008 Mar 1;146A(5):601-9. doi: 10.1002/ajmg.a.32190. Am J Med Genet A. 2008. PMID: 18241066
Microdeletion and microduplication genetic syndromes are known to be a significant cause of developmental delay and dysmorphology. Utilizing high-resolution chromosome analysis, array CGH and SNP technologies we identified a novel genomic syndrome comp …
Microdeletion and microduplication genetic syndromes are known to be a significant cause of developmental delay and dysmorphol …