Deletion (chromosome)

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Deletion on a chromosome

In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) is a mutation (a genetic aberration) in which a part of a chromosome or a sequence of DNA is missing. Deletion is the loss of genetic material. Any number of nucleotides can be deleted, from a single base to an entire piece of chromosome. Deletions can be caused by errors in chromosomal crossover during meiosis. This causes several serious genetic diseases.

Causes

Causes include the following:

• Losses from translocation
• Chromosomal crossovers within a chromosomal inversion
• Unequal crossing over
• Breaking without rejoining

For synapsis to occur between a chromosome with a large intercalary deficiency and a normal complete homolog, the unpaired region of the normal homolog must loop out of the linear structure into a deletion or compensation loop.

Types

Types of deletion include the following:

• Terminal Deletion - a deletion that occurs towards the end of a chromosome.
• Intercalary Deletion - a deletion that occurs from the interior of a chromosome.

Effects

Small deletions are less likely to be fatal; large deletions are usually fatal - there are always variations based on which genes are lost. Some medium-sized deletions lead to recognizable human disorders.

Deletion of a number of base pairs that is not evenly divisible by three will lead to a frameshift mutation, causing all of the codons occurring after the deletion to be read incorrectly during translation, producing a severely altered and potentially nonfunctional protein.

Deletions are responsible for an array of genetic disorders, including some cases of male infertility and two thirds of cases of Duchenne muscular dystrophy. Deletion of part of the short arm of chromosome 5 results in a syndrome called Cri du chat, also known as "cry of the cat" syndrome. It is found in approximately 1 in 50,000 live births. The surviving infants have a distinctive cry, severe mental retardation, and shortened life span.

See also

• Chromosome abnormalities
• Null allele
• List of genetic disorders
• Medical genetics
• Chromosome 5q deletion syndrome
• Chromosome 15q partial deletion
• Chromosome 1, 1p36 deletion syndrome
• 22q11.2 deletion syndrome
• Smith-Magenis syndrome
• Y chromosome microdeletion

References

Chromosomal abnormalities

Autosomal trisomies:

Down syndrome, Edwards syndrome, Patau syndrome, Trisomy 9, Warkany syndrome 2

Autosomal monosomies/deletions:

Wolf-Hirschhorn syndrome, Cri du chat, Angelman syndrome/ Prader-Willi Syndrome

X/Y linked:

Turner syndrome, Triple X syndrome, Klinefelter's syndrome, XYY syndrome

Translocations:

Philadelphia chromosome, Burkitt's lymphoma