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