What is the Difference Between Deletion and Duplication of Chromosome?

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The main difference between deletion and duplication of chromosomes lies in the gain or loss of genetic material. Here are the key differences:

  • Deletion: 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. The effect of a deletion depends on the size and location of the deleted sequence, as well as the genes involved.
  • Duplication: Duplications occur when part of a chromosome is abnormally copied (duplicated), resulting in extra copies of genetic material from the duplicated region. The extra genes present in a duplication may cause those genes to not function properly, leading to errors in development.

Both deletions and duplications can lead to genetic disorders, depending on the size, location, and specific genes involved in the change. Some examples of diseases related to chromosomal duplications and deletions include Charcot-Marie-Tooth disease type I (duplication of 17p12), Hereditary Neuropathy with Pressure Palsies (deletion of 17p12), Smith-Magenis syndrome (deletion of 17p11.2), and Williams-Beuren syndrome (deletion of 7q11.23).

Comparative Table: Deletion vs Duplication of Chromosome

Here is a table comparing the differences between deletion and duplication of chromosomes:

Feature Deletion Duplication
Definition Deletion occurs when a part of a chromosome is lost, resulting in the loss of genetic material. Duplication occurs when part of a chromosome is abnormally copied, resulting in extra copies of genetic material.
Effects on Gene Function Deletions can lead to disruptions in gene function, potentially causing developmental defects and various health issues. Duplications can also affect gene function, but the severity of genetic defects is generally lower compared to deletions. Examples of diseases caused by duplications include Charcot-Marie-Tooth disease type I and Pallister Killian syndrome.
Size Deletions can be large or small and can occur anywhere along a chromosome. Duplications can lead to extra copies of genetic material from the duplicated region.
Symptoms The effects of deletions depend on the size of the lost segment and its location on the chromosome. The clinical effects of duplications tend to be similar but less severe than deletions.
Examples Deletion syndromes, such as Wolf-Hirschhorn syndrome, are characterized by missing genetic material and can result in severe congenital anomalies and significant intellectual and physical disability. Microduplication syndromes, such as duplications of 22q11.2 and 7q11.23, have been identified, but the significance of many microduplications is still unclear.

Both deletions and duplications are types of chromosomal rearrangements that can lead to imbalances in the genetic material and have varying effects on an organism's growth, development, function, and survival.