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Chromosome abnormality. A chromosomal abnormality, chromosomal anomaly, chromosomal aberration, chromosomal mutation, or chromosomal disorder is a missing, extra, or irregular portion of chromosomal DNA. [1][2] These can occur in the form of numerical abnormalities, where there is an atypical number of chromosomes, or as structural ...
Structural variation. Genomic structural variation is the variation in structure of an organism's chromosome, such as deletions, duplications, copy-number variants, insertions, inversions and translocations. Originally, a structure variation affects a sequence length about 1kb to 3Mb, which is larger than SNPs and smaller than chromosome ...
Chromosomal polymorphism. In genetics, chromosomal polymorphism is a condition where one species contains members with varying chromosome counts or shapes. Polymorphism is a general concept in biology where more than one version of a trait is present in a population. In some cases of differing counts, the difference in chromosome counts is the ...
In genetics, a chromosomal rearrangement is a mutation that is a type of chromosome abnormality involving a change in the structure of the native chromosome. [1] Such changes may involve several different classes of events, like deletions, duplications, inversions, and translocations. Usually, these events are caused by a breakage in the DNA ...
Copy number variation is a type of structural variation: specifically, it is a type of duplication or deletion event that affects a considerable number of base pairs. [2] Approximately two-thirds of the entire human genome may be composed of repeats [3] and 4.8–9.5% of the human genome can be classified as copy number variations. [4]
In genetics, chromosome translocation is a phenomenon that results in unusual rearrangement of chromosomes. This includes balanced and unbalanced translocation, with two main types: reciprocal, and Robertsonian translocation. Reciprocal translocation is a chromosome abnormality caused by exchange of parts between non-homologous chromosomes.
Gene cluster. A gene cluster is a group of two or more genes found within an organism's DNA that encode similar polypeptides or proteins which collectively share a generalized function and are often located within a few thousand base pairs of each other. The size of gene clusters can vary significantly, from a few genes to several hundred genes ...
The mutations in mus genes are the candidates as PEV modifiers, as these genes are involved in chromosome maintenance and repair. Chromosome structure in the vicinity of the breakpoint appears to be an important determinant of the gene inactivation process. Six second chromosomal mus mutations were isolated with w m4. A copy of wild-type white ...