What are the genetic disorders found on chromosome 17?
The following diseases are related to genes on chromosome 17:
- 17q12 microdeletion syndrome.
- Koolen–de Vries syndrome.
- Alexander disease.
- Andersen–Tawil syndrome.
- Aneurysmal bone cyst.
- Birt–Hogg–Dubé syndrome.
- Bladder cancer.
- Breast cancer.
What is the function of chromosome 17?
The RARA gene on chromosome 17 provides instructions for making a transcription factor called the retinoic acid receptor alpha (RARα). A transcription factor is a protein that attaches (binds) to specific regions of DNA and helps control the activity (transcription) of particular genes.
What happens if you have an extra chromosome 17?
The symptoms reported include: developmental delays, body asymmetry, slow growth, and cerebellar hypoplasia. Again, signs and symptoms may vary in these individuals depending on which cells and how many cells contain an extra chromosome 17. What causes trisomy 17 mosaicism?
What is 17q12 microdeletion syndrome?
17q12 microdeletion syndrome is a rare chromosomal anomaly syndrome resulting from the partial deletion of the long arm of chromosome 17 characterized by renal cystic disease, maturity onset diabetes of the young type 5, and neurodevelopmental disorders, such as cognitive impairment, developmental delay (particularly …
What is the rarest chromosome disorder?
Trisomy 17 mosaicism is one of the rarest trisomies in humans. It is often incorrectly called trisomy 17 (also referred to as full trisomy 17), which is when three copies of chromosome 17 are present in all cells of the body. Full trisomy 17 has never been reported in a living individual in the medical literature.
How common is Potocki Shaffer syndrome?
Potocki-Shaffer syndrome is a rare condition, although its prevalence is unknown. Fewer than 100 cases have been reported in the scientific literature.
Which chromosome causes the chromosome disorder?
Chromosome disorders: disorders resulting from changes in the number or structure of the chromosomes. For example, Down’s syndrome, which results from an extra chromosome 21 (trisomy 21: three copies of chromosome 21). Down’s syndrome is a chromosome disorder resulting from an extra chromosome 21.
What genetic disorder is missing a chromosome?
Deletions: A portion of the chromosome is missing or deleted. Known disorders in humans include Wolf-Hirschhorn syndrome, which is caused by partial deletion of the short arm of chromosome 4; and Jacobsen syndrome, also called the terminal 11q deletion disorder.
What does the deletion of chromosome 17 mean?
Deletion of a small amount of genetic material (a microdeletion) on chromosome 17 can cause Koolen-de Vries syndrome. This disorder is characterized by developmental delay, intellectual disability, a cheerful and sociable disposition, and a variety of physical abnormalities.
What causes trisomy disorders?
The most common cause of trisomy is a problem in the duplication of chromosomes to create egg and sperm cells. Somewhere along the way, a chromosome duplicates itself twice, creating a full pair. When the egg or sperm cell joins with its counterpart, the extra chromosome is taken along, creating a set of three where where should be two.