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Diseases

Genetic and Rare Diseases Information Center (GARD)

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22q11.2 deletion syndrome


Other Names for this Disease

  • Autosomal dominant Opitz G/BBB syndrome
  • CATCH22
  • Cayler cardiofacial syndrome
  • Chromosome 22q11.2 deletion syndrome
  • Conotruncal anomaly face syndrome
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Your Question

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.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

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 has been reported in people with hypoparathyroidism and people with low levels of calcium in the blood (hypocalcemia);[1] syncope may also occur as a result of other specific features associated with 22q11.2 deletion syndrome.

People who feel faint should speak with a health care provider to determine the underlying cause and discuss treatment options.
Last updated: 1/30/2014

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;[2] hypothyroidism can cause weight gain or difficulty losing weight.
Last updated: 1/30/2014

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.[3]

All people with the deletion, whether they inherited it or not, can pass the deletion to their children. The inheritance pattern is autosomal dominant because having a deletion in only one copy of chromosome 22 in each cell is enough to cause signs and symptoms. Each child of a person with the deletion has a 50% (1 in 2) chance to inherit the deletion.
Last updated: 1/30/2014

References
Other Names for this Disease
  • Autosomal dominant Opitz G/BBB syndrome
  • CATCH22
  • Cayler cardiofacial syndrome
  • Chromosome 22q11.2 deletion syndrome
  • Conotruncal anomaly face syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.