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Results 1 - 10 of 10 for "22q11.2" deletion syndrome
  1. 22q11.2 deletion syndrome 
    22q11.2 deletion syndrome (which is also known by several other names, listed below) is a disorder caused by the ... the chromosome at a location designated q11.2.22q11.2 deletion syndrome has many possible signs and symptoms that can ...
    https://medlineplus.gov/genetics/condition/22q112-deletion-syndrome - Genetics
  2. COMT gene 
    ... the brain. The characteristic signs and symptoms of 22q11.2 deletion syndrome result from a deletion of a small piece ... of behavioral problems and mental illness associated with 22q11.2 deletion syndrome. Little is known, however, about the relationship between ...
    https://medlineplus.gov/genetics/gene/comt - Genetics
  3. Chromosome 22 
    ... structure or number of copies of chromosome 22. 22q11.2 deletion syndrome is a disorder involving heart defects, an opening ... such as schizophrenia (described below). Most people with 22q11.2 deletion syndrome are missing about 3 million base pairs on ...
    https://medlineplus.gov/genetics/chromosome/22 - Genetics
  4. Opitz G/BBB syndrome 
    ... is part of a larger condition known as 22q11.2 deletion syndrome, which is estimated to affect 1 in 4, ... same region is deleted in another condition called 22q11.2 deletion syndrome, researchers often consider Opitz/GBBB syndrome caused by ...
    https://medlineplus.gov/genetics/condition/opitz-g-bbb-syndrome - Genetics
  5. TBX1 gene 
    ... are regulated by this protein. Most cases of 22q11.2 deletion syndrome are caused by a deletion of a small ... are responsible for many of the features of 22q11.2 deletion syndrome. Specifically, a reduction in the amount of T- ...
    https://medlineplus.gov/genetics/gene/tbx1 - Genetics
  6. Polymicrogyria 
    ... intellectual disability and multiple birth defects. These include 22q11.2 deletion syndrome, Adams-Oliver syndrome, Aicardi syndrome, Galloway-Mowat syndrome, ...
    https://medlineplus.gov/genetics/condition/polymicrogyria - Genetics
  7. Critical congenital heart disease 
    ... conditions, such as Down syndrome, Turner syndrome, and 22q11.2 deletion syndrome, result from changes in the number or structure ...
    https://medlineplus.gov/.../critical-congenital-heart-disease - Genetics
  8. Schizophrenia 
    ... palate), and are diagnosed with a condition called 22q11.2 deletion syndrome. AKT1 COMT YWHAE chromosome 22 Additional Information from ...
    https://medlineplus.gov/genetics/condition/schizophrenia - Genetics
  9. 22q11.2 duplication 
    ... Heine-Suner D. Mutations in TBX1 genocopy the 22q11.2 deletion and duplication syndromes: a new susceptibility factor for mental retardation. Eur J Hum Genet. 2007 Jun;15(6):658-63. doi: 10.1038/sj.ejhg.5201819. Epub 2007 Mar 21. ... variability of the 22q11.2 duplication syndrome. Eur J Med Genet. 2008 Nov- ...
    https://medlineplus.gov/genetics/condition/22q112-duplication - Genetics
  10. PRODH gene 
    ... melanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is a candidate ... with deletion (22)(q11.2) syndrome. J Inherit Metab Dis. 2000 Dec;23(8): ...
    https://medlineplus.gov/genetics/gene/prodh - Genetics