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5q35 duplication syndrome: Narrowing the critical region on the distal side and further evidence of intrafamilial variability and expression.
van der Lugt NM, Weerts MJA, Veenma DCM, Lincke CR, Gischler SJ, Alders M, van Ierland Y. van der Lugt NM, et al. Am J Med Genet A. 2023 Mar;191(3):835-841. doi: 10.1002/ajmg.a.63068. Epub 2022 Dec 2. Am J Med Genet A. 2023. PMID: 36458506
Here, we report on a patient and his mother, both with a 5q35.2q35.3 duplication, adding a fifth family to the recently published overview of 39 patients of Quintero-Rivera et al. ...In addition, he had hemophagogocytic lymphohistiocytosis (HLH) triggered by Haemoph …
Here, we report on a patient and his mother, both with a 5q35.2q35.3 duplication, adding a fifth family to the recently publis …
5q35 duplication presents with psychiatric and undergrowth phenotypes mediated by NSD1 overexpression and mTOR signaling downregulation.
Quintero-Rivera F, Eno CC, Sutanto C, Jones KL, Nowaczyk MJM, Wong D, Earl D, Mirzaa G, Beck A, Martinez-Agosto JA. Quintero-Rivera F, et al. Hum Genet. 2021 Apr;140(4):681-690. doi: 10.1007/s00439-020-02240-5. Epub 2021 Jan 3. Hum Genet. 2021. PMID: 33389145 Free PMC article.
NSD1 is responsible for the phenotype of the reciprocal 5q35.2q35.3 microdeletion-microduplication syndromes. We expand the phenotype and demonstrate the functional role of NSD1 in microduplication 5q35 syndrome. ...RESULTS: The individuals (including a family) from …
NSD1 is responsible for the phenotype of the reciprocal 5q35.2q35.3 microdeletion-microduplication syndromes. We expand the phenotype …
Duplication of the SLIT3 locus on 5q35.1 predisposes to major depressive disorder.
Glessner JT, Wang K, Sleiman PM, Zhang H, Kim CE, Flory JH, Bradfield JP, Imielinski M, Frackelton EC, Qiu H, Mentch F, Grant SF, Hakonarson H. Glessner JT, et al. PLoS One. 2010 Dec 1;5(12):e15463. doi: 10.1371/journal.pone.0015463. PLoS One. 2010. PMID: 21152026 Free PMC article.
Duplication was observed in 5 unrelated MDD cases encompassing 646 kb with highly similar breakpoints. SLIT3 is integral to repulsive axon guidance based on binding to Roundabout receptors. Duplication of 5q35.1 is a highly penetrant variation accounting for …
Duplication was observed in 5 unrelated MDD cases encompassing 646 kb with highly similar breakpoints. SLIT3 is integral to repulsive …
Identification of copy-number variants in patients with overgrowth disorders.
Parra A, Tenorio-Castano J, Nevado J, Cazalla M, Miranda-Alcaraz L, Gallego-Zazo N, Silván C, Arias P, Pozo-Román J, Ballesta-Martínez MJ, Guillén-Navarro E, Arroyo I, Lotersztein V, Cosentino V, González-Meneses A, Galán E, Rosell J, Ramos F; Spanish OverGrowth Registry Initiative; Lapunzina P. Parra A, et al. Clin Genet. 2024 Nov;106(5):614-624. doi: 10.1111/cge.14596. Epub 2024 Aug 1. Clin Genet. 2024. PMID: 39091142
Several copy-number variants (CNVs) have been associated with the development of OGS, such as the 5q35 microdeletion or the duplication of the 15q26.1-qter, among many others. In this study, we have applied 850K SNP-arrays to 112 patients and relatives with OGS from …
Several copy-number variants (CNVs) have been associated with the development of OGS, such as the 5q35 microdeletion or the duplic …
Microarray delineation of familial chromosomal imbalance with deletion 5q35 and duplication 10q25 in a child showing multiple anomalies and dysmorphism.
Masri A, Gimelli S, Hamamy H, Sloan-Béna F. Masri A, et al. Am J Med Genet A. 2014 May;164A(5):1254-61. doi: 10.1002/ajmg.a.36412. Epub 2014 Jan 29. Am J Med Genet A. 2014. PMID: 24478242
Postnatal chromosome analysis revealed an unbalanced karyotype involving a der (5) and array-CGH defined two unbalanced regions with partial 2.3 Mb deletion of 5q35.3 in combination with a large 19.5 Mb duplication of chromosome 10 from q25.3 to q26.3. ...
Postnatal chromosome analysis revealed an unbalanced karyotype involving a der (5) and array-CGH defined two unbalanced regions with partial …
De novo 5q35.5 duplication with clinical presentation of Sotos syndrome.
Kasnauskiene J, Cimbalistiene L, Ciuladaite Z, Preiksaitiene E, Kučinskienė ZA, Hettinger JA, Sismani C, Patsalis PC, Kučinskas V. Kasnauskiene J, et al. Am J Med Genet A. 2011 Oct;155A(10):2501-7. doi: 10.1002/ajmg.a.34179. Am J Med Genet A. 2011. PMID: 21998857
We report on a girl with developmental delay and a de novo 264 kb interstitial duplication in the region of Sotos syndrome at 5q35.3 in the immediate vicinity of critical NSD1 gene, but manifesting the phenotype, of overgrowth both prenatal stage and postnatal, macr …
We report on a girl with developmental delay and a de novo 264 kb interstitial duplication in the region of Sotos syndrome at 5q35 …
The Hunter-McAlpine syndrome results from duplication 5q35-qter.
Hunter AG, Dupont B, McLaughlin M, Hinton L, Baker E, Adès L, Haan E, Schwartz CE. Hunter AG, et al. Clin Genet. 2005 Jan;67(1):53-60. doi: 10.1111/j.1399-0004.2005.00378.x. Clin Genet. 2005. PMID: 15617549
Clin Dysmorphol 1993: 2 (2): 123-130 have cryptic translocations resulting in duplication of 5q35-qter. Similarities are noted between our patients and others in the literature with duplication of this chromosome segment....
Clin Dysmorphol 1993: 2 (2): 123-130 have cryptic translocations resulting in duplication of 5q35-qter. Similarities are noted …
NSD1 duplication in Silver-Russell syndrome (SRS): molecular karyotyping in patients with SRS features.
Sachwitz J, Meyer R, Fekete G, Spranger S, Matulevičienė A, Kučinskas V, Bach A, Luczay A, Brüchle NO, Eggermann K, Zerres K, Elbracht M, Eggermann T. Sachwitz J, et al. Clin Genet. 2017 Jan;91(1):73-78. doi: 10.1111/cge.12803. Epub 2016 Jun 30. Clin Genet. 2017. PMID: 27172843
Pathogenic variants could be detected in five of them, including a NSD1 duplication in 5q35 and a 14q32 microdeletion. NSD1 deletions are detectable in overgrowth disorders (Sotos syndrome and Beckwith-Wiedemann syndrome), whereas NSD1 duplications are associ …
Pathogenic variants could be detected in five of them, including a NSD1 duplication in 5q35 and a 14q32 microdeletion. NSD1 de …
52 results