What is 17p13 deletion?
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 is 17p13?
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. Although the other chromosomes are intact, this small missing piece does increase the possibility of developmental delay and learning difficulties.
How common are microdeletion syndromes?
Microdeletion 22q11 deletion syndrome (22q11DS) has a prevalence of approximately 1 in 3000 births. It is the most common syndrome associated with patients with isolated CP, and it has been increasingly recognized in patients who present with velopharyngeal dysfunction.
Are microdeletions normal?
In fact, by some estimates nearly all of us have some microdeletion in our chromosomes. For example, 22q11. 2 deletion syndrome is rare and occurs in about one out of 4,000 people. But this condition may be underdiagnosed, which means it could occur more frequently.
What is 16p13 microdeletion?
The information in A 16p13.11 microdeletion is a very rare genetic condition in which a tiny piece is missing from one of the 46 chromosomes – chromosome 16.
What is the size of a 17p13 gene deletion?
The features of 17p13.1 and/or 17p13.2 microdeletions are likely to be the result of the loss of a number of different genes found in this region. The size of the microdeletions that have been documented in this guide range from approximately 219kb to 1.6 Mb.
Do children with microdeletions of 17p13 have heart problems?
Some children with 17p13.1 and/or 17p13.2 microdeletions can have heart problems. Of 11 children with 17p13.1 and/or 17p13.2 microdeletions, five are currently reported to have no heart problems. Heart problems in other children varied and included one child who had a heart murmur which was present from birth (congenital murmur).
What is the size of microdeletions?
These techniques show whether particular genes are present or not. The features of 17p13.1 and/or 17p13.2 microdeletions are likely to be the result of the loss of a number of different genes found in this region. The size of the microdeletions that have been documented in this guide range from approximately 219kb to 1.6 Mb.