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  2. Chromosomal inversion - Wikipedia

    en.wikipedia.org/wiki/Chromosomal_inversion

    An inversion is a chromosome rearrangement in which a segment of a chromosome becomes inverted within its original position. An inversion occurs when a chromosome undergoes a two breaks within the chromosomal arm, and the segment between the two breaks inserts itself in the opposite direction in the same chromosome arm.

  3. 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. There are over 6,000 known genetic disorders in humans.

  4. Chromosome abnormality - Wikipedia

    en.wikipedia.org/wiki/Chromosome_abnormality

    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. Known disorders in humans include Wolf–Hirschhorn syndrome, which is caused by partial deletion of the short arm of chromosome 4; and Jacobsen syndrome, also called the terminal 11q deletion ...

  5. Chromosomal rearrangement - Wikipedia

    en.wikipedia.org/wiki/Chromosomal_rearrangement

    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] Such changes may involve several different classes of events, like deletions , duplications , inversions , and translocations .

  6. Category:Chromosomal abnormalities - Wikipedia

    en.wikipedia.org/wiki/Category:Chromosomal...

    This category reflects the organization of International Statistical Classification of Diseases and Related Health Problems, 10th Revision. Generally, diseases outlined within the ICD-10 codes Q90-Q99 within Chapter XVII: Congenital malformations, deformations and chromosomal abnormalities should be included in this category.

  7. Chromosome instability syndrome - Wikipedia

    en.wikipedia.org/wiki/Chromosome_instability...

    Chromosome instability syndromes include several inherited neurodegenerative diseases that are due to mutations in genes that encode enzymes necessary for DNA repair. Epigenetic alterations often occur in association with the DNA repair defect, and such alterations likely have a role in the etiology of the disease. Chromosome instability ...

  8. International System for Human Cytogenomic Nomenclature

    en.wikipedia.org/wiki/International_System_for...

    Three chromosomal abnormalities with ISCN nomenclature, with increasing complexity: (A) A tumour karyotype in a male with loss of the Y chromosome, (B) Prader–Willi Syndrome i.e. deletion in the 15q11-q12 region and (C) an arbitrary karyotype that involves a variety of autosomal and allosomal abnormalities. [3]

  9. Genetic disorder - Wikipedia

    en.wikipedia.org/wiki/Genetic_disorder

    There are well over 6,000 known genetic disorders, [4] and new genetic disorders are constantly being described in medical literature. [5] More than 600 genetic disorders are treatable. [ 6 ] Around 1 in 50 people are affected by a known single-gene disorder, while around 1 in 263 are affected by a chromosomal disorder . [ 7 ]