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  2. Chromosome 22 - Wikipedia

    en.wikipedia.org/wiki/Chromosome_22

    Chromosome 22 is the second smallest human chromosome, spanning about 51 million DNA base pairs and representing between 1.5 and 2% of the total DNA in cells. In 1999, researchers working on the Human Genome Project announced they had determined the sequence of base pairs that make up this chromosome. Chromosome 22 was the first human ...

  3. Chromosomal rearrangement - Wikipedia

    en.wikipedia.org/wiki/Chromosomal_rearrangement

    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]

  4. Philadelphia chromosome - Wikipedia

    en.wikipedia.org/wiki/Philadelphia_chromosome

    The result is that a fusion gene is created by juxtaposing the ABL1 gene on chromosome 9 (region q34) to a part of the BCR (breakpoint cluster region) gene on chromosome 22 (region q11). This is a reciprocal translocation, creating an elongated chromosome 9 (termed a derivative chromosome, or der 9), and a truncated chromosome 22 (the ...

  5. Robertsonian translocation - Wikipedia

    en.wikipedia.org/wiki/Robertsonian_translocation

    Humans have five of these acrocentric chromosomes: 13, 14, 15, 21 and 22. When these chromosomes break at their centromeres, the two resulting long arms may fuse. The result is a single, large chromosome with a metacentric centromere. This form of rearrangement is a Robertsonian translocation. [citation needed]

  6. 22q13 deletion syndrome - Wikipedia

    en.wikipedia.org/wiki/22q13_deletion_syndrome

    Various deletions affect the terminal region of the long arm of chromosome 22 (the paternal chromosome in 75% of cases, [citation needed]) from 22q13.3 to 22qter. Although the deletion is most typically a result of a de novo mutation, there is an inherited form resulting from familial chromosomal translocations involving the

  7. Copy number variation - Wikipedia

    en.wikipedia.org/wiki/Copy_number_variation

    Copy number variation was initially thought to occupy an extremely small and negligible portion of the genome through cytogenetic observations. [12] Copy number variations were generally associated only with small tandem repeats or specific genetic disorders, [13] therefore, copy number variations were initially only examined in terms of specific loci.

  8. 22q11.2 distal deletion syndrome - Wikipedia

    en.wikipedia.org/wiki/22q11.2_distal_deletion...

    22q11.2 distal deletion syndrome is a rare genetic condition caused by a tiny missing part of one of the body's 46 chromosomeschromosome 22. 22q11.2 distal deletion syndrome appears to be a recurrent genomic disorder distinct from 22q11.2 deletion syndrome also known as DiGeorge syndrome (DGS; 188400) and velocardiofacial syndrome (VCFS; 192430).

  9. 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.