Are there different types of Prader-Willi syndrome?

There are three main molecular mechanisms that result in PWS: paternal deletion, maternal UPD 15, and ID ( Figure 4 ). Genetic classes of Prader-Willi syndrome (PWS) and their average frequencies (I: deletion, II: uniparental disomy, III: imprinting defect).

What type of mutation is Prader-Willi syndrome?

This phenomenon is called maternal uniparental disomy . Rarely, Prader-Willi syndrome can also be caused by a chromosomal rearrangement called a translocation , or by a mutation or other defect that abnormally turns off (inactivates) genes on the paternal chromosome 15.

Is Angelman Syndrome uniparental disomy?

Uniparental disomy refers to the situation in which 2 copies of a chromosome come from the same parent, instead of 1 copy coming from the mother, and 1 copy coming from the father. Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are examples of disorders that can be caused by uniparental disomy.

Who is required to do dye testing for PWSA?

If it is determined that a property is located in a sanitary sewer area, a dye test must be performed by a certified plumber or general contractor and the results forwarded to PWSA on the provided Dye Testing Results Form .

How does Prader Willi syndrome ( PWS ) occur?

PWS is the result of an abnormality on chromosome 15. There are three ways that this can happen. In many cases, there is a deletion of critical genes on a portion of the 15 th chromosome normally contributed by the father.

How long does it take PWSA to reply to a form?

PWSA will review the form and determine if the property is located in an area where a sanitary sewer exists. PWSA will reply to the form within 10 business days of receipt.

When does PWSA reply to evidence of compliance certificate application?

PWSA will reply to the Evidence of Compliance Certificate Application within 10 business days of receipt. If a dye test is needed, the timeline is dependent upon multiple factors. PWSA will reply to the Dye Testing Results Form within 10 business days of receipt as well.

Are there different types of Prader-Willi syndrome? There are three main molecular mechanisms that result in PWS: paternal deletion, maternal UPD 15, and ID ( Figure 4 ). Genetic classes of Prader-Willi syndrome (PWS) and their average frequencies (I: deletion, II: uniparental disomy, III: imprinting defect). What type of mutation is Prader-Willi syndrome? This phenomenon…