chromosome duplication

Summary

Summary: An aberration in which an extra chromosome or a chromosomal segment is made.

Top Publications

  1. Al Dhaibani M, Allingham Hawkins D, El Hattab A. De novo chromosome 7q36.1q36.2 triplication in a child with developmental delay, growth failure, distinctive facial features, and multiple congenital anomalies: a case report. BMC Med Genet. 2017;18:118 pubmed publisher
    ..Studying further cases with similar genomic rearrangements is needed to make final conclusions about the pathogenicity of this triplication. ..
  2. Arbogast T, Iacono G, Chevalier C, Afinowi N, Houbaert X, van Eede M, et al. Mouse models of 17q21.31 microdeletion and microduplication syndromes highlight the importance of Kansl1 for cognition. PLoS Genet. 2017;13:e1006886 pubmed publisher
    ..31 deletion. Together, these novel mouse models provide new genetic tools valuable for the development of therapeutic approaches. ..
  3. Tassano E, Giacomini T, Severino M, Gamucci A, Fiorio P, Gimelli G, et al. Characterization of the Phenotype Associated with Microduplication Reciprocal to NF1 Microdeletion Syndrome. Cytogenet Genome Res. 2017;152:22-28 pubmed publisher
    ..2 microduplications. We also analyzed the gene content of the duplicated region in order to investigate the possible role of specific genes in the clinical phenotype of our patient. ..
  4. Yon D, Park J, Kim S, Shim S, Chae K. A sibship with duplication of Xq28 inherited from the mother; genomic characterization and clinical outcomes. BMC Med Genet. 2017;18:30 pubmed publisher
    ..We tried to analyze the information of the relationship between neuropsychiatric phenotype and the extent of duplication at Xq28 by comparing with previous reports. ..
  5. Grau C, Starkovich M, Azamian M, Xia F, Cheung S, Evans P, et al. Xp11.22 deletions encompassing CENPVL1, CENPVL2, MAGED1 and GSPT2 as a cause of syndromic X-linked intellectual disability. PLoS ONE. 2017;12:e0175962 pubmed publisher
    ..Loss of GSPT2 and/or MAGED1 function may contribute to the intellectual disability and developmental delay seen in males with these deletions. ..
  6. Flanagan S, Mackay D, Greeley S, McDonald T, Mericq V, Hassing J, et al. Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype. Diabetologia. 2013;56:218-21 pubmed publisher
  7. Verma G, Dhar Y, Srivastava D, Kidwai M, Chauhan P, Bag S, et al. Genome-wide analysis of rice dehydrin gene family: Its evolutionary conservedness and expression pattern in response to PEG induced dehydration stress. PLoS ONE. 2017;12:e0176399 pubmed publisher
    ..The results obtained strongly indicated the importance of DHNs, as they are conserved during the course of domestication. ..
  8. Wessel K, Suleiman J, Khalaf T, Kishore S, Rolfs A, El Hattab A. 17q23.2q23.3 de novo duplication in association with speech and language disorder, learning difficulties, incoordination, motor skill impairment, and behavioral disturbances: a case report. BMC Med Genet. 2017;18:119 pubmed publisher
    ..2q23.3 duplication. ..
  9. Lucas J, Roest Crollius H. High precision detection of conserved segments from synteny blocks. PLoS ONE. 2017;12:e0180198 pubmed publisher
    ..All these refinements are implemented in a new version of PhylDiag that has been benchmarked against i-ADHoRe 3.0 and Cyntenator, based on a realistic simulated evolution and true simulated conserved segments. ..

More Information

Publications18

  1. Kjeldsen E. Characterization of an acquired jumping translocation involving 3q13.31-qter in a patient with de novo acute monocytic leukemia. Exp Mol Pathol. 2017;103:14-25 pubmed publisher
    ..31 occurring in rare cases of acute monocytic leukemia, being associated with adverse prognosis. The impact of shortened telomeres in forming the JT is reviewed. ..
  2. Pettersson M, Viljakainen H, Loid P, Mustila T, Pekkinen M, Armenio M, et al. Copy Number Variants Are Enriched in Individuals With Early-Onset Obesity and Highlight Novel Pathogenic Pathways. J Clin Endocrinol Metab. 2017;102:3029-3039 pubmed publisher
    ..The involved genes might provide insights into pathogenic mechanisms and involved cellular pathways. These findings highlight the importance of CNV screening in children with early-onset obesity. ..
  3. Capela de Matos R, Ney Garcia D, Cifoni E, Othman M, Tavares de Souza M, Carboni E, et al. GAS6 Oncogene and Reverse MLLT3-KMT2A Duplications in an Infant with Acute Myeloid Leukemia and a Novel Complex Hyperdiploid Karyotype: Detailed High-Resolution Molecular Cytogenetic Studies. Cytogenet Genome Res. 2017;152:33-37 pubmed publisher
    ..Our work suggests that molecular cytogenetic studies are crucial for the planning of a proper strategy for risk therapy in AML infants with hyperdiploid karyotypes. ..
  4. Xue Y, Shankar S, Cornell K, Dai Z, Wang C, Rudd M, et al. Paternal duplication of the 11p15 centromeric imprinting control region is associated with increased expression of CDKN1C in a child with Russell-Silver syndrome. Am J Med Genet A. 2015;167A:3229-33 pubmed publisher
  5. Naseer M, Faheem M, Chaudhary A, Kumosani T, Al Quaiti M, Jan M, et al. Genome wide analysis of novel copy number variations duplications/deletions of different epileptic patients in Saudi Arabia. BMC Genomics. 2015;16 Suppl 1:S10 pubmed publisher
    ..These findings enable us to better describe the genetic variations in epilepsy, and could provide a foundation for understanding the critical regions of the genome which might be involved in the development of epilepsy. ..
  6. Kamenicky P, Bouligand J, Chanson P. Gigantism, acromegaly, and GPR101 mutations. N Engl J Med. 2015;372:1264 pubmed publisher
  7. Leslie M. Strength in numbers?. Science. 2014;343:725-7 pubmed publisher
  8. Moscovich M, Ledoux M, Xiao J, Rampon G, Vemula S, Rodriguez R, et al. Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case report. BMC Med Genet. 2013;14:70 pubmed publisher
    ..No pathogenic mutations were identified in BRCA1 or BRCA2. Overexpression of TFDP1 has been associated with breast cancer and may also be linked to the tall stature, dysmorphism and dystonia seen in our patient. ..
  9. Capalbo A, Sinibaldi L, Bernardini L, Spasari I, Mancuso B, Maggi E, et al. Interstitial 4q deletion associated with a mosaic complementary supernumerary marker chromosome in prenatal diagnosis. Prenat Diagn. 2013;33:782-96 pubmed publisher