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In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) is a mutation (a Chromosome#Chromosomal aberrations) 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.Lewis R. 2005. Human Genetics: Concepts and Applications, 6th Ed. McGraw Hill, New York. 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 - but always, there is variation based on what 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 (genetics), 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. A 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

References

In genetics, a deletion (also called gene deletion, deficiency, or deletion mutation) is a mutation (a Chromosome#Chromosomal aberrations) 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.Lewis R. 2005. Human Genetics: Concepts and Applications, 6th Ed. McGraw Hill, New York. 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 - but always, there is variation based on what 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 (genetics), 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. A 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

References

Deletion (genetics) - Wikipedia, the free encyclopedia
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 ...

Research Autism - Recurrent genetic deletion linked to autism
Charity which provides free, impartial and scientifically accurate information about treatments and therapies for people with autism spectrum disorders.

Research Autism - Autism and recurrent genetic deletion linked
Charity which provides free, impartial and scientifically accurate information about treatments and therapies for people with autism spectrum disorders.

Handbook of Genetic Counseling/Cri-du-chat syndrome - deletion 5p ...
edit] Contracting. Introduction; Ask about what their main concerns are; Explain that we will update medical and developmental history since her last visit to genetics; Doctor will ...

GENETIC DISORDERS - 22q11.2 Deletion Syndrome (DiGeorge Syndrome)
Health encyclopaedia: A to Z of genetic disorders, diseases and conditions... ... 22q11.2 Deletion Syndrome (DiGeorge Syndrome) What is 22q11.2 deletion syndrome?

Recurrent Genetic Deletion Linked To Autism, Study Shows
Loss of a small portion of chromosome 16, known as 16p11.2, is significantly associated with autism researchers report in the journal Human Molecular Genetics. Although this ...

Recurrent genetic deletion linked to autism
Loss of a small portion of chromosome 16, known as 16p11.2, is significantly associated with autism researchers report in the journal Human Molecular Genetics. Although this ...

www.ncbi.nlm.nih.gov

Deletion (Chromosome) - Psychology Wiki
A genetic deletion is a genetic aberration in which part of a chromosome is missing. This causes several serious genetic diseases.

University of Chicago News Office | Recurrent genetic deletion linked ...
University of Chicago News Office Press Release ... Loss of a small portion of chromosome 16, known as 16p11.2, is significantly associated with autism report researchers from the ...