Difference Between Deletion and Duplication of Chromosome

Deletions occur when a chromosome breaks and some genetic material is lost. Deletions can be large or small, and can occur anywhere along a chromosome. Duplications. Duplications occur when part of a chromosome is abnormally copied (duplicated).

What is the difference between deletion and duplication?

The term "duplication" simply means that a part of a chromosome is duplicated, or present in 2 copies. This results in having extra genetic material, even though the total number of chromosomes is usually normal. ... If a deletion is a missing ingredient in the recipe, a duplication is an extra ingredient.

What is chromosome duplication?

Duplication is a type of mutation that involves the production of one or more copies of a gene or region of a chromosome. Gene and chromosome duplications occur in all organisms, though they are especially prominent among plants. Gene duplication is an important mechanism by which evolution occurs.

What does chromosome deletion mean?

Deletion is a type of mutation involving the loss of genetic material. It can be small, involving a single missing DNA base pair, or large, involving a piece of a chromosome.

What causes chromosome duplication?

When the condition occurs sporadically, it is caused by a random error during the formation of the egg or sperm cell , or during the early days after fertilization. The duplication occurs when part of chromosome 1 is copied (duplicated) abnormally, resulting in the extra genetic material from the duplicated segment.

How common is chromosome deletion?

22q11 deletion syndrome is the most common human chromosomal deletion syndrome occurring in approximately 1 per 4000–6000 live births [32].

What disease is caused by deletion mutation?

Deletions are responsible for an array of genetic disorders, including some cases of male infertility, two thirds of cases of Duchenne muscular dystrophy, and two thirds of cases of cystic fibrosis (those caused by ΔF508).

What happens during chromosome duplication?

In chromosomal duplications, extra copies of a chromosomal region are formed, resulting in different copy numbers of genes within that area of the chromosome.

How can you tell if a chromosome is duplicated?

Chromosomes undergo additional compaction at the beginning of mitosis. When fully condensed, replicated chromosomes appear as thick X-shaped structures that are readily observed under the microscope (see figure below). Chromosomes can have 1 or 2 chromatids, depending on whether they have replicated.

What happens after gene duplication?

After a whole genome duplication, there is a relatively short period of genome instability, extensive gene loss, elevated levels of nucleotide substitution and regulatory network rewiring. In addition, gene dosage effects play a significant role.

Is chromosome deletion a disability?

Chromosomal deletion syndromes result from loss of parts of chromosomes. They may cause severe congenital anomalies and significant intellectual and physical disability.

Is autism an extra chromosome?

An extra copy of a stretch of genes on chromosome 22 may contribute to autism, according to the first study to carefully characterize a large group of individuals who carry this duplication1. The doubling can also lead to medical complications, such as vision or heart problems. The region, called 22q11.

Is autism a missing chromosome?

Autism is just as common among children missing a segment of chromosome 16 as it is in those with an extra copy, according to a new study1. The study is the first to carefully characterize psychiatric diagnoses in a large group of individuals who carry these mutations. The findings are at odds with previous work.

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