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It shows 22 homologous autosomal chromosome pairs, both the female (XX) and male (XY) versions of the two sex chromosomes, as well as the mitochondrial genome (at bottom left). 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]
The information in the second set of parentheses, when given, gives the precise location within the chromosome for chromosomes A and B respectively—with p indicating the short arm of the chromosome, q indicating the long arm, and the numbers after p or q refers to regions, bands and sub-bands seen when staining the chromosome with a staining ...
Paternally-derived chromosome rearrangement psu dic: pseudo dicentric – only one centromere in a dicentric chromosome is active q: Long arm of a chromosome r: Ring chromosome t: Translocation: ter: Terminal end of arm (e.g. 2qter refers to the end of the long arm of chromosome 2) tri: Trisomy: trp: Triplication of a portion of a chromosome
Such recombination often results in dramatic chromosomal rearrangement, which is generally harmful to the organism. [1] Some research, however, has suggested that ectopic recombination can result in mutated chromosomes that benefit the organism. [ 2 ]
An inversion is a chromosome rearrangement in which a segment of a chromosome becomes inverted within its original position. An inversion occurs when a chromosome undergoes a two breaks within the chromosomal arm, and the segment between the two breaks inserts itself in the opposite direction in the same chromosome arm.
Interstitial deletions: an intra-chromosomal deletion that removes a segment of DNA from a single chromosome, thereby apposing previously distant genes. For example, cells isolated from a human astrocytoma , a type of brain tumour, were found to have a chromosomal deletion removing sequences between the Fused in Glioblastoma (FIG) gene and the ...
Chromothripsis: Single catastrophic event in a cell's history. Chromothripsis is a mutational process by which up to thousands of clustered chromosomal rearrangements occur in a single event in localised and confined genomic regions in one or a few chromosomes, and is known to be involved in both cancer and congenital diseases.
The result is a single, large chromosome with a metacentric centromere. This form of rearrangement is a Robertsonian translocation. [citation needed] This type of translocation may involve homologous (paired) or non-homologous chromosomes. Owing to the acrocentric nature of the chromosomes involved, the long arms of these chromosomes contain ...