What happens when you are missing chromosome 17?

What happens when you are 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 17q12 duplication syndrome?

17q12 duplication is a chromosomal change in which a small piece of chromosome 17 is copied (duplicated ) abnormally in each cell. The duplication occurs on the long (q) arm of the chromosome at a position designated q12.

What type of gene is chromosome 17?

Chromosome 17 spans more than 83 million base pairs (the building material of DNA) and represents between 2.5 and 3% of the total DNA in cells. Chromosome 17 contains the Homeobox B gene cluster….

Chromosome 17
No. of genes 1,124 (CCDS)
Type Autosome
Centromere position Submetacentric (25.1 Mbp)
Complete gene lists

How is the 17q12 deletion syndrome inherited?

This condition is inherited in an autosomal dominant pattern, which means one copy of the chromosomal deletion in each cell is sufficient to cause the disorder. Most cases of 17q12 deletion syndrome result from a new (de novo) chromosomal deletion and occur in people with no history of the disorder in their family.

Are there any signs or symptoms of 17q12 duplication?

Some people with this duplication do not have any signs or symptoms. Other people may have symptoms including intellectual disability, developmental delay, and behavioral challenges. Some people with 17q12 duplication may also have vision problems.

What is the purpose of the 17q12 project?

17q12 Project is a project through the Geisinger Autism & Developmental Medicine Institute (ADMI) that is dedicated to gaining better understanding of the behavioral, developmental, and medical characteristics associated with extra or missing material in the 17q12 chromosomal region.