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Chromosomal Aberrations
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Polyploidy
Polyploidy is a chromosomal alteration in which a cell has more than two complete sets of chromosomes. Common causes include errors in meiosis, mitosis, or cell fusion. Example: Triploid organisms.
Insertion
Insertion mutations occur when additional DNA bases are inserted into a chromosome. Causes can be errors in DNA replication or transposable elements. Example: Friedrich's ataxia.
Isochromosome
An isochromosome is a chromosomal aberration where there are two identical arms of a chromosome. Causes can include misdivision of the centromere during cell division. Example: Turner syndrome, with an isochromosome of the X chromosome.
Ring chromosome
A ring chromosome occurs when the telomeres of a single chromosome fuse to form a ring shape. Causes include telomere dysfunction or DNA damage. Example: Turner syndrome can also involve ring chromosomes.
Duplication
Duplication is a mutation where additional copies of a segment of DNA are generated. Causes include unequal crossing over during meiosis. Example: Charcot-Marie-Tooth disease type 1A.
Uniparental disomy
Uniparental disomy is the inheritance of a pair of chromosomes from one parent with no corresponding chromosomes from the other parent. Causes can include errors in meiotic division. Example: Prader-Willi and Angelman syndromes.
Deletion
A deletion refers to a mutation where a part of a chromosome or a sequence of DNA is lost during DNA replication. Causes can include errors in meiosis or mitosis. Example: Cri-du-chat syndrome.
Inversion
An inversion mutation occurs when a single chromosome undergoes breakage and rearrangement within itself. Causes can be errors during meiosis. Example: Hemophilia A is associated with an inversion of chromosome X.
Translocation
A translocation occurs when a segment of one chromosome is transferred to another non-homologous chromosome. Causes can involve errors during meiosis or exposure to radiation. Example: Chronic myelogenous leukemia (CML).
Aneuploidy
Aneuploidy is the presence of an abnormal number of chromosomes in a cell. Causes include nondisjunction during meiosis or mitosis. Example: Down syndrome (trisomy 21).
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