What does chromosome duplication cause?
During a disease process, extra copies of the gene can contribute to a cancer. Genes can also duplicate through evolution, where one copy can continue the original function and the other copy of the gene produces a new function. On occasion, whole chromosomes are duplicated. In humans this causes disease.
Is chromosome duplication harmful?
Duplication creates genetic redundancy, where the second copy of the gene is often free from selective pressure—that is, mutations of it have no deleterious effects to its host organism.
How common is chromosome duplication?
Duplications are even less common, showing a prevalence of 0.7 per 10,000 births and representing ≍ 2% of all the chromosome abnormalities identified (Wellesley et al., 2012).
What is cranial duplication syndrome?
Diprosopus is a congenital defect also known as craniofacial duplication. The exact description of diprosopus refers to a fetus with a single trunk, normal limbs, and facial features that are duplicated to a certain degree.
What is the most common fate of a duplicated gene?
The most common fate for duplicate genes is the functional conservation of one paralog and non-functionalization of the other (Rensing, 2014) (Figure 4(a)).
What disease is caused by duplication mutation?
Deletions, Duplications, and Disease
| Genetic Disease | Type of Rearrangement | Location Affected |
|---|---|---|
| Charcot-Marie-Tooth disease type I | Duplication | 17p12 |
| Hereditary neuropathy with pressure palsies | Deletion | 17p12 |
| Smith-Magenis syndrome | Deletion | 17p11.2 |
| Williams-Beuren syndrome | Deletion | 7q11.23 |
Can duplication syndrome be inherited?
Inheritance. MECP2 duplication syndrome is inherited in an X-linked pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes in each cell.
What are the effects of chromosome duplication?
The duplication occurs near the middle of the chromosome at a location designated p11.2. This duplication can have a variety of effects. Common characteristics that occur in people with a 16p11.2 duplication include a low weight; a small head size (microcephaly); and developmental delay, especially in speech and language.
What are the symptoms of chromosome 9p duplication syndrome?
The commonly noted signs and symptoms of Chromosome 9p Duplication Syndrome include: Widely-spaced eyes with downward slant; epicanthal folds at inner corners Poor muscle tone (hypotonia) and increased muscle tone (hypertonia) have been noted
What are the signs and symptoms of chromosome Xq duplication?
The signs and symptoms of a chromosome Xq duplication vary significantly depending on the size of the duplication, the sex of the affected person, and the genes found on the duplicated segment of the chromosome. In general, males with a chromosome Xq duplication are generally more severely affected than females with the duplication.
What is chromosome 1q21 duplication syndrome?
Chromosome 1q21.1 duplication syndrome is a rare condition caused by the presence of an extra copy of a small piece of chromosome 1 in the cells of the body. Signs and symptoms can vary widely among affected individuals.