National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

22q11.2 deletion syndrome



I frequently feel faint and have passed out. Is this related to having this syndrome? I am overweight and find it hard to lose. Also, if I tried for another child, would it have the syndrome too? My daughter has it.


Is feeling faint, or fainting, a symptom of 22q11.2 deletion syndrome?

We are not aware of published reports suggesting that feeling faint, or fainting (called syncope) is a symptom directly associated with 22q11.2 deletion syndrome; however, syncope may occur as a result of features associated with 22q11.2 deletion syndrome. For example, syncope has been reported in people with hypoparathyroidism and people with low levels of calcium in the blood (hypocalcemia).[1][2]

People who feel faint should speak with a health care provider to determine the underlying cause and discuss treatment options.
Last updated: 5/1/2017

Is being overweight, or having difficulty losing weight, a symptom of 22q11.2 deletion syndrome?

Being overweight, or having difficulty losing weight, does not appear to be a symptom of 22q11.2 deletion syndrome specifically. However, an affected individual may have another condition causing this symptom that is associated with 22q11.2 deletion syndrome. For example, some autoimmune disorders such as hypothyroidism are associated with 22q11.2 deletion syndrome;[3] hypothyroidism can cause weight gain or difficulty losing weight.[4]
Last updated: 5/1/2017

How is 22q11.2 deletion syndrome inherited?

Most cases of 22q11.2 deletion syndrome are not inherited from a parent and are caused by a random error during the formation of egg or sperm cells, or during early fetal development. In about 10% of cases, the deletion is inherited from a parent with the deletion.[5]

When the deletion is inherited, it is inherited in an autosomal dominant pattern.[5] This means that having the deletion in only one copy of chromosome 22 in each cell is enough to cause features of the condition. There is nothing that either parent can do, before or during a pregnancy, to cause a child to have this condition.

When a person with a deletion that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that deletion.
Last updated: 5/1/2017

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

Warm regards,
GARD Information Specialist

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  1. Suneja M, Muster H. Hypocalcemia. Medscape Reference. JUly 26, 2016; http://emedicine.medscape.com/article/241893-overview.
  2. Pitukcheewanont D. Hypoparathyroidism. Medscape. August 5 2015; http://emedicine.medscape.com/article/922204.
  3. Donna M McDonald-McGinn, Beverly S Emanuel, and Elaine H Zackai. 22q11.2 Deletion Syndrome. GeneReviews. February 28, 2013; http://www.ncbi.nlm.nih.gov/books/NBK1523/#gr_22q11deletion.. Accessed 1/30/2014.
  4. Hypothyroidism. MedlinePlus. https://medlineplus.gov/hypothyroidism.html. Accessed 5/1/2017.
  5. 22q11.2 deletion syndrome. Genetics Home Reference. July, 2013; http://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome.