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  2. Chromosomal inversion - Wikipedia

    en.wikipedia.org/wiki/Chromosomal_inversion

    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.

  3. Deletion (genetics) - Wikipedia

    en.wikipedia.org/wiki/Deletion_(genetics)

    When a chromosome breaks, if a part of it is deleted or lost, the missing piece of chromosome is referred to as a deletion or a deficiency. [ 2 ] For synapsis to occur between a chromosome with a large intercalary deficiency and a normal complete homolog, the unpaired region of the normal homolog must loop out of the linear structure into a ...

  4. Structural variation - Wikipedia

    en.wikipedia.org/wiki/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 abnormality (though the ...

  5. Chromosomal rearrangement - Wikipedia

    en.wikipedia.org/wiki/Chromosomal_rearrangement

    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.

  6. Chromosome abnormality - Wikipedia

    en.wikipedia.org/wiki/Chromosome_abnormality

    The three major single-chromosome mutations: deletion (1), duplication (2) and inversion (3). The two major two-chromosome mutations: insertion (1) and translocation (2). When the chromosome's structure is altered, this can take several forms: [16] Deletions: A portion of the chromosome is

  7. Koolen–De Vries syndrome - Wikipedia

    en.wikipedia.org/wiki/Koolen–de_Vries_syndrome

    The recurrent deletion is between 500 and 650 kilobases (Kb) in size encompassing at least six genes, among them the microtubule-associated protein tau ().A review of five patients found the parental chromosome from which the deletion originated carried a common 900kb inversion polymorphism. [8]

  8. Chromosomal deletion syndrome - Wikipedia

    en.wikipedia.org/wiki/Chromosomal_deletion_syndrome

    Chromosomal deletion syndromes result from deletion of parts of chromosomes. Depending on the location, size, and whom the deletion is inherited from, there are a few known different variations of chromosome deletions. Chromosomal deletion syndromes typically involve larger deletions that are visible using karyotyping techniques.

  9. Derivative chromosome - Wikipedia

    en.wikipedia.org/wiki/Derivative_chromosome

    A derivative chromosome (der) is a structurally rearranged chromosome generated either by a chromosome rearrangement involving two or more chromosomes or by multiple chromosome aberrations within a single chromosome (e.g. an inversion and a deletion of the same chromosome, or deletions in both arms of a single chromosome).