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  2. Chromosomal translocation - Wikipedia

    en.wikipedia.org/wiki/Chromosomal_translocation

    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. Two ...

  3. Balancer chromosome - Wikipedia

    en.wikipedia.org/wiki/Balancer_chromosome

    Balancer chromosomes are named for the chromosome they serve to stabilize and for the phenotypic or genetic marker the balancer carries. [9] The naming of balancer chromosomes in D. melanogaster has been standardized as follows: the first letter of the chromosome's name represents the number of the chromosome it stabilizes.

  4. Robertsonian translocation - Wikipedia

    en.wikipedia.org/wiki/Robertsonian_translocation

    Robertsonian translocation occurs in acrocentric chromosome pairs (number II in the image), where the short arms are fairly short but not very short. A: Short arm (p arm) B: Centromere C: Long arm (q arm) D: Sister chromatids. All chromosomes in animals have a long arm (known as q) and a short arm (known as p), separated by a region called the ...

  5. Genetics of Down syndrome - Wikipedia

    en.wikipedia.org/wiki/Genetics_of_Down_syndrome

    The balanced translocation figure shows a 14/21 translocation between the long arms of chromosomes 14 and 21, where the other chromosomes are not shown. The individual has two copies of everything on chromosome 14, and two copies of all of the material on the long arm of chromosome 21 (21q). The derivative chromosome 21, which contains only ...

  6. 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 ...

  7. Chromosomal polymorphism - Wikipedia

    en.wikipedia.org/wiki/Chromosomal_polymorphism

    Possessing chromosomes of varying shapes is generally the result of a chromosomal translocation or chromosomal inversion. In a translocation, genetic material is transferred from one chromosome to another, either symmetrically or asymmetrically (a Robertsonian translocation). In an inversion, a segment of a chromosome is flipped end-for-end.

  8. PacBio Technology Powers Landmark Multiomic Study Published ...

    lite.aol.com/tech/story/0022/20250129/9349370.htm

    Previous diagnostic methods, including short-read sequencing, were unable to provide an answer. With PacBio’s innovative multiomic solutions, researchers identified a chromosome X;13 balanced translocation disrupting four key genes—each through a unique molecular mechanism.

  9. t (11:14) - Wikipedia

    en.wikipedia.org/wiki/T(11:14)

    t(11;14) is a chromosomal translocation which essentially always involves the immunoglobulin heavy locus, also known as IGH in the q32 region of chromosome 14, as well as cyclin D1 which is located in the q13 of chromosome 11 . [2] Specifically, the translocation is at t(11;14)(q13;q32). [3] [4]