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  2. 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

  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. Mutation - Wikipedia

    en.wikipedia.org/wiki/Mutation

    Diploid organisms (e.g., humans) contain two copies of each gene—a paternal and a maternal allele. Based on the occurrence of mutation on each chromosome, we may classify mutations into three types. A wild type or homozygous non-mutated organism is one in which neither allele is mutated. A heterozygous mutation is a mutation of only one allele.

  5. List of genetic disorders - Wikipedia

    en.wikipedia.org/wiki/List_of_genetic_disorders

    The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.

  6. Genetic disorder - Wikipedia

    en.wikipedia.org/wiki/Genetic_disorder

    Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). [3] There are well over 6,000 known genetic disorders, [4] and new genetic disorders are constantly being described in medical literature. [5]

  7. Chromosome 3 - Wikipedia

    en.wikipedia.org/wiki/Chromosome_3

    Chromosome 3 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. People normally have two copies of this chromosome. Chromosome 3 spans more than 198 million base pairs (the building material of DNA ) and represents about 6.5 percent of the total DNA in cells .

  8. Genetic variation - Wikipedia

    en.wikipedia.org/wiki/Genetic_variation

    Random mutations are the ultimate source of genetic variation. Mutations are likely to be rare, and most mutations are neutral or deleterious, but in some instances, the new alleles can be favored by natural selection. Polyploidy is an example of chromosomal mutation. Polyploidy is a condition wherein organisms have three or more sets of ...

  9. Gene duplication - Wikipedia

    en.wikipedia.org/wiki/Gene_duplication

    Gene duplication (or chromosomal duplication or gene amplification) is a major mechanism through which new genetic material is generated during molecular evolution.It can be defined as any duplication of a region of DNA that contains a gene.