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Did you mean 3q29 microduplications syndrome (17 results)?
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 clinical features that i …
Interstitial duplications of 3q29 have recently been described in association with a new genetic syndrome characterized by a neurodev …
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.
BACKGROUND: The 3q29 microduplication syndrome is a rare genomic disorder characterized by an extremely variable neurodevelopmental phenotype usually involving a genomic region ranging from 1.6 to 1.76 Mb. A small microduplication of 448.8 Kb containing only …
BACKGROUND: The 3q29 microduplication syndrome is a rare genomic disorder characterized by an extremely variable neurod …
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. ...In-depth studies are needed to understand the pathophysiological mechanisms leading to the traits seen in this very rare syndrome. …
3q29 microduplication syndrome is characterized by widely variable clinical presentation, but generally mild features. …
[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. ...
3q29 microduplication (MIM 611936) is rare syndrome characterized by moderate mental retardation, craniofacial dysmorph …
3q29 microduplication syndrome: Description of two new cases and delineation of the minimal critical region.
Tassano E, Uccella S, Giacomini T, Severino M, Siri L, Gherzi M, Celle ME, Porta S, Gimelli G, Ronchetto P. Tassano E, et al. Eur J Med Genet. 2018 Aug;61(8):428-433. doi: 10.1016/j.ejmg.2018.02.011. Epub 2018 Mar 1. Eur J Med Genet. 2018. PMID: 29501613
Heterogeneous clinical and neuropsychological features, such as intellectual disability, developmental and language delay, hypotonia, and, to a lesser extent, microcephaly that is present in about the half of the reported patients, characterize the 3q29 microduplication …
Heterogeneous clinical and neuropsychological features, such as intellectual disability, developmental and language delay, hypotonia, and, t …
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 …
An Unusual Psychiatric Presentation of the 3q29 Microduplication Syndrome.
Reis F, Pereira C, Laureano M, Cartaxo T. Reis F, et al. Cureus. 2020 Mar 8;12(3):e7203. doi: 10.7759/cureus.7203. Cureus. 2020. PMID: 32269882 Free PMC article.
The 3q29 microduplication syndrome is usually associated with an intellectual disability or global developmental delay and mild dysmorphisms. ...The current case is of an adolescent girl with the 3q29 microduplication syndrome who had a d …
The 3q29 microduplication syndrome is usually associated with an intellectual disability or global developmental delay …
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 severe intellectual di …
Interstitial microduplication of 3q29 has been recently described. Individuals with this syndrome have widely variable phenotypes. We …
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. ...Schizophrenia, generalized anxiety disorder, and recurrent ear infections were unique phenoty …
BACKGROUND: Chromosome 3q29 duplication syndrome is a rare chromosomal disorder with a frequency of 1:5000 in pa …
15 results