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Types of Chromosomal Mutations

Aneuploidy
Aneuploidy

Aneuploidy is the second major category of chromosome mutations in which chromosome number is abnormal. An aneuploid is an individual organism whose chromosome number differs from the wild type by part of a chromosome set.

Chromosomal Mutations
Chromosomal Mutations

The four main types of chromosomal mutations are deletion, duplication, inversion and translocation. A fifth chromosomal mutation is known as a deficiency. This occurs when a chromosome is lost sometime during fertilization or development of a fetus.

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Chromosomal Mutations Tips
Chromosomal Mutations Tips

Start studying Chromosomal Mutations. Learn vocabulary, terms, and more with flashcards, games, and other study tools.

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Deletion
Deletion

The four main types of chromosomal mutations are deletion, duplication, inversion and translocation. A fifth chromosomal mutation is known as a deficiency. This occurs when a chromosome is lost sometime during fertilization or development of a fetus.

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Down Syndrome
Down Syndrome

Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy. All affected individuals experience cognitive delays, but the intellectual disability is usually mild to moderate.

Down's Syndrome or Trisomy 21
Down's Syndrome or Trisomy 21

Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy. This condition is most often caused by trisomy 21. Trisomy 21 means that each cell in the body has three copies of chromosome 21 instead of the usual two copies.

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Duplication
Duplication

A type of mutation in which a portion of a genetic material or a chromosome is duplicated or replicated, resulting in multiple copies of that region. Supplement Duplication results from an unequal crossing-over between misaligned homologous chromosomes during meiosis.

Edward's Syndrome or Trisomy 18
Edward's Syndrome or Trisomy 18

Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with abnormalities in many parts of the body. Individuals with trisomy 18 often have slow growth before birth (intrauterine growth retardation) and a low birth weight.

Inversion
Inversion

Such an event creates a chromosomal mutation called an inversion. Unlike deletions and duplications, inversions do not change the overall amount of the genetic material, so inversions are generally viable and show no particular abnormalities at the phenotypic level.

Karyotype
Karyotype

The four main types of chromosomal mutations are deletion, duplication, inversion and translocation. A fifth chromosomal mutation is known as a deficiency. This occurs when a chromosome is lost sometime during fertilization or development of a fetus. A deletion is the loss of a chromosomal fragment ...

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Patau Syndrome or Trisomy 13
Patau Syndrome or Trisomy 13

Patau syndrome is a severe chromosomal abnormality that is primarily caused by the addition of an extra copy of chromosome 13. It means that most cells in the body will have three copies of this chromosome, instead of the usual two.

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Translocation
Translocation

Translocation mutations take place when a portion of a chromosome is relocated. The genes from one chromosome can move to another position on the same chromosome; alternatively, they can become incorporated into a different chromosome.

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Wolf-Hirschhorn Syndrome or Deletion 4p Syndrome
Wolf-Hirschhorn Syndrome or Deletion 4p Syndrome

Wolf-Hirschhorn syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4. This chromosomal change is sometimes written as 4p-.