
A clay model showing why heterozygous inversion loops are visible in
polytene chromosome preparations

An inversion loop in the A arm of a chromosome from an ''
Axarus'' species midge
An 'inversion' is a
chromosome rearrangement in which a segment of a chromosome is reversed end to end. An inversion occurs when a single chromosome undergoes breakage and rearrangement within itself. Inversions are of two types: 'paracentric' and 'pericentric'.
Paracentric inversions do not include the
centromere and both breaks occur in one arm of the chromosome. Pericentric inversions include the centromere and there is a break point in each arm. Special
cytogenetics techniques are often needed to detect inversions. In the "giant"
polytene chromosomes found in some organisms, inversions can be easily visualized when they are
heterozygous. This is a very useful characteristic of
polytene chromosomes that was first noted by
Theophilus Shickel Painter in 1933.
Inversions usually do not cause any abnormalities in carriers as long as the rearrangement is balanced with no extra or missing genetic information. However, there is an increased chance for the production of unbalanced chromosome rearrangements in the offspring of carriers. Families that may be carriers of inversions may be offered
genetic counseling and
genetic testing.
The most common inversion seen in humans is on chromosome 9, at inv(9)(p11q12). This inversion is generally considered to have no deleterious or harmful effects, but there is some evidence it leads to an increased risk for miscarriage for about 30% of affected couples.
References
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A new method for the study of chromosome rearrangements and the plotting of chromosome maps., Painter, TS, , , Science, 1933 l
See also
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Chromosome abnormalities
External links
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