22q11.2 deletion syndrome

Inheritance

How is 22q11.2 deletion syndrome inherited?

22q11.2 deletion syndrome is considered an autosomal dominant disorder as one change or mutation is enough to cause the disorder. For a parent with this disorder, there is a 50% chance that any of their children will inherit the same deletion and have 22q11.2 deletion syndrome. It is believed that approximately 7% of individuals with 22q11.2 deletion syndrome have inherited the condition from a parent.

The other 93% of the time, 22q11.2 deletion syndrome is a new diagnosis in the family and not inherited from a parent. This is typically called a new or "de novo" mutation and can occur randomly during fetal development leading to a baby with 22q11.2 deletion syndrome. Although these people did not inherit 22q11.2 deletion syndrome from a parent, they have a 50% chance to pass it on to any child they have.

Genetic testing is able to determine if the condition was inherited or occurred new in an individual and it may beneficial to review such results with a genetic counselor. A genetic counselor in your area can be found on the National Society of Genetic Counselor's "Find a Genetic Counselor" page of the website: https://www.nsgc.org/page/find-a-genetic-counselor.

References
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Will my child with 22q.11.2 deletion syndrome be able to have children?

What is the chance for our family to have another child with 22q11.2 deletion syndrome?

Will my child with 22q.11.2 deletion syndrome be able to have children?

People with 22q11.2 deletion don't typically have any difficulty conceiving a child. Whether or not they are able to effectively parent a child may be influenced by how severely affected an individual is. Any person with 22q11.2 deletion has a 50% chance to pass it on to any child that they have. Genetic testing is available preconception (before pregnancy), during pregnancy, as well as after delivery. For individuals with 22q11.2 deletion syndrome, meeting with a genetic counselor when at reproductive age may be beneficial to review the chance of passing it on and discuss available testing options if interested. A genetic counselor in your area can be found on the National Society of Genetic Counselor's "Find a Genetic Counselor" page of the website: https://www.nsgc.org/page/find-a-genetic-counselor.

References
What is the chance for our family to have another child with 22q11.2 deletion syndrome?

If one parent is identified to have 22q11.2 deletion syndrome, there is a 50% chance for the each pregnancy to also be affected. If neither parent is identified to have 22q11.2 deletion syndrome, the chance is less than 1%, though not 0%. This is because of the possibility of mosaicism, or when all the cells in the body do not have the same genetic information. If cells in a parent's egg or sperm have the deletion or only a small number of cells in the whole body of the deletion, it may not be picked up by genetic testing. To discuss the chance of having another child with 22q11.2 deletion syndrome, you can talk to a genetic counselor. A genetic counselor in the area can be found on the National Society of Genetic Counselor's "Find a Genetic Counselor" page of the website: https://www.nsgc.org/page/find-a-genetic-counselor.

References
  • McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 Deletion Syndrome. 1999 Sep 23 [Updated 2013 Feb 28]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1523/

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