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 chromosome deletion syndrome?
Chromosomal deletion syndromes result from loss of parts of chromosomes. They may cause severe congenital anomalies and significant intellectual and physical disability.
What chromosome is Asperger’s found on?
A previously known risk factor includes the autism susceptibility locus on chromosome 7q32. Finally, the top-ranked region in the new study, located at chromosome 3p14, is located only 1307 kilobases from a marker for Asperger syndrome identified by the Finnish team.
What are chromosome 17 traits?
Human chromosome 17 is implicated in a wide range of human genetic diseases. It is home to genes involved in early-onset breast cancer (BRCA1), neurofibromatosis (NF1) and the DNA damage response (TP53 encoding the p53 protein).
What causes chromosome 17q23.2 microdeletion syndrome?
The syndrome is caused by an interstitial deletion (a deletion that does not involve the ends of a chromosome) encompassing bands 23.1 to 23.2 on the long (q) arm of chromosome 17.
Is there a missing chromosome on chromosome 17?
17q12 deletion syndrome is a chromosome abnormality in which there is a small missing piece (deletion) of genetic material on the long arm (q) of chromosome 17. Signs and symptoms can vary widely among people with this syndrome.
Where can I find information about 17q12 deletion syndrome?
Genetics Home Reference (GHR) contains information on 17q12 deletion syndrome. This website is maintained by the National Library of Medicine. Unique is a source of information and support to families and individuals affected by rare chromosome disorders. Click on the link to view information about 17q12 deletion syndrome.
How many genes are there on chromosome 17?
Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 17 likely contains 1,100 to 1,200 genes that provide instructions for making proteins. These proteins perform a variety of different roles in the body.