What happens when there is a deletion of a chromosome?
When parts of chromosomes are missing, a number of syndromes can occur. These syndromes are called chromosomal deletion syndromes. They tend to cause birth defects and limited intellectual development and physical development. In some cases, defects can be severe and affected children die during infancy or childhood.
What is chromosome 17p13?
A 17p13 microdeletion is a rare disorder in which a small part of the genetic material that makes up one of the body’s 46 chromosomes is missing. Although the other chromosomes are intact, this small missing piece does increase the possibility of developmental delay and learning difficulties.
What chromosome is affected by deletion?
The deletion at the end of both arms of the chromosome results in missing DNA, which may cause a chromosome disorder. MedlinePlus Genetics provides a diagram of the steps involved in the formation of a ring chromosome. [1][2][5] An example of a ring condition is ring chromosome 14 syndrome.
Is Chromosome 17 a gene?
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 |
What is Potocki Lupski syndrome?
Potocki-Lupski syndrome is a condition that results from having an extra copy (duplication ) of a small piece of chromosome 17 in each cell. The duplication occurs on the short (p) arm of the chromosome at a position designated p11. 2. This condition is also known as 17p11. 2 duplication syndrome.
What is Koolen-de Vries syndrome?
Koolen-de Vries syndrome is a disorder characterized by developmental delay and mild to moderate intellectual disability. People with this disorder typically have a disposition that is described as cheerful, sociable, and cooperative. They usually have weak muscle tone (hypotonia) in childhood.
How many chromosomes are missing in a 17p13.3 microdeletion?
17p13.3 microdeletions. A 17p13.3 microdeletion is a rare disorder in which a small part of the genetic material that makes up one of the body’s 46 chromosomes is missing.
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.
What happens if you delete part of 17p13.3?
A deletion of part of 17p13.3, including both the LIS1 (also known as PAFAH1B1) gene and the YWHAE gene, is known as Miller-Dieker Syndrome. This syndrome is characterised by lissencephaly (‘smooth brain’) as well as unusual facial features, learning difficulties, and various other symptoms such as seizures.
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.
https://www.youtube.com/watch?v=NXrucQ2tOzE