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  2. 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.

  3. 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 missing or has been deleted.

  4. Liebenberg syndrome - Wikipedia

    en.wikipedia.org/wiki/Liebenberg_syndrome

    Liebenberg syndrome is a rare autosomal genetic disease that involves a deletion mutation upstream of the PITX1 gene, which is one that's responsible for the body's organization, specifically in forming lower limbs. [2] In animal studies, when this deletion was introduced to developing birds, their wing buds were noted to take on limb-like ...

  5. Deletion (genetics) - Wikipedia

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

    The smallest single base deletion mutations occur by a single base flipping in the template DNA, followed by template DNA strand slippage, within the DNA polymerase active site. [ 3 ] [ 4 ] [ 5 ] Deletions can be caused by errors in chromosomal crossover during meiosis , which causes several serious genetic diseases .

  6. 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.

  7. Disease gene identification - Wikipedia

    en.wikipedia.org/wiki/Disease_gene_identification

    Disease gene identification is a process by which scientists identify the mutant genotypes responsible for an inherited genetic disorder. Mutations in these genes can include single nucleotide substitutions, single nucleotide additions/deletions, deletion of the entire gene, and other genetic abnormalities.

  8. List of Plasmodium species - Wikipedia

    en.wikipedia.org/wiki/List_of_Plasmodium_species

    A deletion of the LS1 rRNA gene of P. gonderi P. cynomolgi and P. simiovale has been reported. [46] This mutation was not found in the other species of this group that were examined - P. fragile, P. knowelsi, P. simiae and P. vivax. These mutations are rare and suggest a relationship between the first three species to the exclusion of the others.

  9. 13q deletion syndrome - Wikipedia

    en.wikipedia.org/wiki/13q_deletion_syndrome

    13q deletion syndrome is a rare genetic disease caused by the deletion of some or all of the large arm of human chromosome 13. Depending upon the size and location of the deletion on chromosome 13, the physical and mental manifestations will vary. It has the potential to cause intellectual disability and congenital malformations that affect a ...