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  2. Deletion (genetics) - Wikipedia

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

    Deletion on a chromosome. In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) (sign: Δ) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is left out during DNA replication.

  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. Deletion mapping - Wikipedia

    en.wikipedia.org/wiki/Deletion_mapping

    In genetics and especially genetic engineering, deletion mapping is a technique used to find out the mutation sites within a gene. The principle of deletion mapping involves crossing a strain which has a point mutation in a gene, with multiple strains who each carry a deletion in a different region of the same gene.

  5. Mutation - Wikipedia

    en.wikipedia.org/wiki/Mutation

    A frameshift mutation is caused by insertion or deletion of a number of nucleotides ... Conditional mutation is a ... to generate unambiguous mutation descriptions ...

  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. 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 ...

  8. 1p36 deletion syndrome - Wikipedia

    en.wikipedia.org/wiki/1p36_deletion_syndrome

    1p36 deletion syndrome is a congenital genetic disorder characterized by moderate to severe intellectual disability, delayed growth, hypotonia, seizures, limited speech ability, malformations, hearing and vision impairment, and distinct facial features. The symptoms may vary, depending on the exact location of the chromosomal deletion.

  9. 10q26 deletion - Wikipedia

    en.wikipedia.org/wiki/10q26_deletion

    10q26 deletion is an extremely rare genetic syndrome caused by terminal deletion of the long arm of chromosome 10 at 10q26. [1] It is usually a de novo mutation.Symptoms can include "growth and mental retardation, microcephaly, triangular face, strabismus, hypertelorism, prominent nasal bridge, beaked or prominent nose, low-set dysplastic ears, various congenital heart defects, cryptorchidism ...