22q11.2 deletion syndrome
Please note that the links contained on this search results page may take you
to sites outside of the NIH. (See Disclaimer under Site Policies for details.)
22q11.2 deletion syndrome is a spectrum disorder encompassing what was formerly called DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and cases of Opitz G/BBB syndrome, and Cayler cardiofacial syndrome.[1] It is characterized by a variety of symptoms, including cleft palate, heart defects, unique facial characteristics, learning and feeding problems, immune system disorders, hypoparathyroidism, and scoliosis.[2] Symptoms can vary greatly from patient to patient. It is caused by a missing piece (deletion) of chromosome 22. The deletion occurs near the middle of the chromosome at a location designated q11.2.[1] Click here to view a diagram of chromosome 22.
For more information about 22q11.2 deletion syndrome click on the boxes below:
Click arrows to expand or collapse a Resource Section.
Show All Resources
Hide All Resources
- More Detailed Information (Found: 8 Resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates
- General
-
eMedicine provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free
-
The Genetic Alliance is an international coalition comprised of more than 600 advocacy, research and health care organizations representing millions of individuals with genetic conditions. Click on the link to view information on this topic.
-
Genetics Home Reference (GHR) contains a condition summary on 22q11.2 deletion syndrome. Click on the link to go to GHR and review this summary.
-
MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
-
The National Institute on Deafness and Other Communication Disorders (NIDCD) conducts and supports biomedical and behavioral research and research training in the normal and disordered processes of hearing, balance, smell, taste, voice, speech, and language. Click on the link to view information on this topic.
-
The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss 22q11.2 deletion syndrome. Click on the link to go to OMIM and review these resources.
-
PubMed is a searchable database of medical literature and lists journal articles that discuss 22q11.2 deletion syndrome. Click on the link to view a sample search on this topic.
- Management Guidelines
-
GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
- Support Groups (Found: 4 Resources)
Groups providing a wide range of services, supportive resources, and information
- Umbrella Organizations
- Live Chat
-
The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
-
RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
- Clinical Trials & Research (Found: 2 Resources)
Resources where you may find research studies and clinical trials
-
ClinicalTrials.gov lists trials that are studying or have studied 22q11.2 deletion syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
-
CRISP is a searchable database of federally funded biomedical research projects conducted at universities, hospitals, and other research institutions. Although these projects may not conduct studies on humans, you may want to contact the investigators to learn more. To search for studies click on the link and enter the disease name in the enter search terms box and click the and button below the box. Then click Submit Query.
- NLM Gateway
A tool to search across multiple resources offered on the National Library of Medicine's Website
-
The NLM Gateway allows users to search across multiple resources offered on the National Library of Medicine's Web site. Some of these resources may be duplicated in the list of links above. Click on the link to go to the NLM Gateway, and search by condition name.