Results 21 to 30 of about 483,817 (151)

Large inverted duplications in the human genome form via a fold-back mechanism. [PDF]

PLoS Genetics, 2014
Inverted duplications are a common type of copy number variation (CNV) in germline and somatic genomes. Large duplications that include many genes can lead to both neurodevelopmental phenotypes in children and gene amplifications in tumors.
Karen E Hermetz, Scott Newman, Karen N Conneely, Christa L Martin, Blake C Ballif, Lisa G Shaffer, Jannine D Cody, M Katharine Rudd   +7 more
doaj   +1 more source

Chromosome duplication causing gene‐dosage‐based effects on the gene expression level in Gossypium hirsutum‐Gossypium australe addition lines

Plant Direct, 2020
Polyploidization, or whole‐genome duplication, leads to gene expression changes that drive the evolution of many plants and some animals. However, the role of the dosage effect on gene expression changes following genome duplication remains unclear. Here,
Shouli Feng, Min Xu, Haiyue Guo, Fujie Liu, Changjiang Cui, Ting Zhao, Baoliang Zhou   +6 more
doaj   +1 more source

Gene count from target sequence capture places three whole genome duplication events in Hibiscus L. (Malvaceae)

BMC Ecology and Evolution, 2021
Background The great diversity in plant genome size and chromosome number is partly due to polyploidization (i.e. genome doubling events). The differences in genome size and chromosome number among diploid plant species can be a window into the ...
J. S. Eriksson, C. D. Bacon, D. J. Bennett, B. E. Pfeil, B. Oxelman, A. Antonelli   +5 more
doaj   +1 more source

Example of CNV merging on a chromosome X duplication.

, 2020
A. Entire duplication of chromosome X. CovCopCan detects six CNV areas without the merging CNV algorithm. B. By using the merging CNV algorithm, the duplication detected includes all of chromosome X, although some amplicons appear as neutral (grey dots).
Paco Derouault (8442999), Franck Sturtz (2848178), Karine Durand (322314), Federica Miressi (8443005), Anne-Sophie Lia (2848181), Hélène Dzugan (8443011), Sylvie Bourthoumieu (666039), Stéphane Mérillou (8443014), Corinne Magdelaine (8443008), David Rizzo (3534971), Jean Feuillard (10679), Jasmine Chauzeix (8443002)   +11 more
core   +1 more source

Chromosome 15q overgrowth syndrome: Prenatal diagnosis, molecular cytogenetic characterization, and perinatal findings in a fetus with dup(15)(q26.2q26.3)

Taiwanese Journal of Obstetrics & Gynecology, 2011
Objective: To present molecular cytogenetic characterization of a prenatally detected duplication of 15q26.2→q26.3 in a fetus with overgrowth. Case Report: A 34-year-old para 0 woman underwent amniocentesis at 18 weeks of gestation because of advanced ...
Chih-Ping Chen, Yi-Hui Lin, Heng-Kien Au, Yi-Ning Su, Chin-Yuan Hsu, Yu-Peng Liu, Pei-Chen Wu, Schu-Rern Chern, Yu-Ting Chen, Li-Feng Chen, Adam Hwa-Ming Hsieh, Wayseen Wang   +11 more
doaj   +1 more source

Functional and molecular effects of chromosome 21 trisomy [PDF]

, 2010
Down Syndrome (DS) is the most frequent autosomal aneuploidy that is compatible with post-natal life. The DS phenotype has been attributed to overexpression of chromosome 21 (Hsa21) genes.
Izzo, Antonella
core   +1 more source

Phenotypic and Cytogenetic Variety of Pure Partial Trisomy [PDF]

Acta Medica Iranica, 2009
Duplications of chromosome 16p are often the products of unbalanced maternal reciprocal translocations and consequently the phenotype of patients is not typical of pure partial trisomy 16p.
Mehrdad Noruzinia, Genevieve Lefort, Anne Marie Chaze, Jacques Puechberty, Franck Pellestor, Patricia Blanchet, Valerie Cacheux, Pierre Sarda   +7 more
doaj   +1 more source

A Novel 2.3 Mb Microduplication of 9q34.3 Inserted into 19q13.4 in a Patient with Learning Disabilities

Case Reports in Pediatrics, 2012
Insertional translocations in which a duplicated region of one chromosome is inserted into another chromosome are very rare. We report a 16.5-year-old girl with a terminal duplication at 9q34.3 of paternal origin inserted into 19q13.4.
Shalinder Singh, Fern Ashton, Renate Marquis-Nicholson, Jennifer M. Love, Chuan-Ching Lan, Salim Aftimos, Alice M. George, Donald R. Love   +7 more
doaj   +1 more source

An Adolescent with a Rare De Novo Distal Trisomy 6p and Distal Monosomy 6q Chromosomal Combination

Case Reports in Genetics, 2020
We report on a 12-year-old female with both a partial duplication and deletion involving chromosome 6. The duplication involves 6p25.3p24.3 (7.585 Mb) while the deletion includes 6q27q27 (6.244 Mb).
Leia A. Peterman, Gail H. Vance, Erin E. Conboy, Katelynn Anderson, David D. Weaver   +4 more
doaj   +1 more source

Segmental Duplication of Chromosome 11 and its Implications for Cell Division and Genome-wide Expression in Rice

Scientific Reports, 2017
Segmental duplication is a major structural variation that occurs in chromosomes. Duplication leads to the production of gene copies with increased numbers of related repeat segments, causing the global genome to be in a state of imbalance.
Rong Zhang, Chao Xue, Guanqing Liu, Xiaoyu Liu, Mingliang Zhang, Xiao Wang, Tao Zhang, Zhiyun Gong   +7 more
doaj   +1 more source