What are the genetic disorders found on chromosome 17?

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?

Chromosome 17 (Chr17) harbors crucial genes that encode proteins implicated in a variety of cancers, including some that guard cancer cells from genomic instability and others that interfere with metastasis.

What traits are found on chromosome 17?

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 is the chromosome 17 mutation?

17q12 deletion syndrome is a condition that results from the deletion of a small piece of chromosome 17 in each cell. The deletion occurs on the long (q) arm of the chromosome at a position designated q12. The signs and symptoms of 17q12 deletion syndrome vary widely, even among affected members of the same family.

What happens if your missing chromosome 17?

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 is Johanson Blizzard syndrome?

Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, mental retardation, hypothyroidism, dental …