22q11.2 Deletion Syndrome
(Included conditions: DiGeorge syndrome, Velocardiofacial syndrome, Conotruncal anomaly face syndrome, Autosomal dominant Opitz G/BBB syndrome, Sedlackova syndrome, Cayler cardiofacial syndrome)
If you have just found out through prenatal testing that your baby has or may have 22q11.2 deletion syndrome and are looking for more information, the Genetic Support Foundation is a good starting point.
There are many other important resources out there, including your doctor and genetic counselor. We have also compiled a list of resources that can provide you with additional information and support. After reviewing the information below, if you have a question that you are having difficulty finding an answer for, please feel free to contact us.
22q11.2 deletion syndrome is associated with a variety of health and developmental concerns. It is important to remember that each individual with 22q11.2 deletion syndrome is unique and the symptoms of the 22q11 deletion can vary tremendously from person to person. Some people with 22q11.2 deletions do not have any major noticeable health effects, and in fact may never know they have it, while others may have a number of significant health and developmental concerns which in some cases can be quite serious.
Many people often wonder, what is life like for people with 22q11.2 deletion syndrome?
People with 22q11.2 deletion syndrome can have loving relationships with friends and family, go to school with their peers are interested in learning about a variety of topics. As adults, many individuals work in jobs they find meaningful and are often able to live independently or semi-independently. Many people with 22q11.2 will have children of their own. You can find stories about children and adults with 22q11.2 deletion syndrome here.
22q11.2 deletions syndrome is caused by a deletion on the long arm (“q”) of the 22nd chromosome. This deletion results in the loss of several genes. Most of the time this deletion is said to be “de novo”, which means that it was not passed down from a parent – it is brand new in the individual who is diagnosed with the condition. In this case, the deletion occurs in the development of an egg or a sperm and is then copied over into every cell in the developing baby’s body.
About 10% of people who are diagnosed with 22q11.2 deletion syndrome have inherited the deletion from a parent who also has 22q11.2 deletion syndrome. In many of these cases, the parent did not know they had 22q11.2 deletion until their child was diagnosed.
The health and developmental concerns associated with individuals with 22q11.2 deletion syndrome varies significantly from person to person, even within the same family. Below is a list of some of the more common concerns associated with 22q11.2 deletion. It is important to know that typically people with 22q11.2 deletion syndrome do not necessarily experience all of these health concerns.
- Congenital heart defects
- Abnormalities of the Palate, such as cleft palate
- Developmental Delays, such as speech or motor delays
- Learning difficulties – usually mild intellectual disability
- Immune deficiency
- Difficulties with feeding and swallowing
- Gastrointestinal anomalies
- Hearing loss
- Growth hormone deficiency
- Autoimmune disorders
- Ophthalmologic abnormalities
- Autism or autistic spectrum disorder
- Psychiatric illness in adults
The chance to have another baby with 22q11.2 depends on whether or not one of the parents carries the deletion. If one of the parents of an individual with 22q11.2 deletion syndrome is found to carry the deletion, the chance for each pregnancy to be affected is 50%.
If both parents undergo genetic testing for the deletion and neither are found to carry it, then the risk to for future pregnancies is low, in most cases.
A study that surveyed the parents of 76 school aged children with 22q11.2 deletion syndrome reported that the majority of parents felt that their child had brought joy and happiness to their lives, they said they enjoyed their child’s sense of humor, and felt that having their child increased their patience and tolerance. Many parents indicated challenges regarding parenting a child with 22q11.2 deletion syndrome related to their learning, communication and medical difficulties. In considering the future, concerns most frequently reported related to their worries about their child’s ability to live independently, find meaningful employment and concerns related to future mental and physical health.
Typically, the 22q11.2 deletion is copied over into every cell in the person’s body and the missing genes and proteins cannot be replaced. There is no “cure” for 22q11.2 deletion. Screening for detection and treatment of various health concerns can be important to reduce complications associated with this condition. Individuals with 22q11.2 deletion may need regular follow-up and treatment from various health specialties depending on their specific needs. In many cases, early intervention programs for individuals with 22q11.2 deletion can help individuals reach their full potential. Intervention programs may include speech, physical, occupational, and/or educational therapy.
The health and developmental effects of 22q11.2 vary tremendously and so the long term prognosis of 22q11.2 deletion syndrome depends on the person. Some people with 22q11.2 have no intellectual disability at all, while others may have more significant developmental and intellectual disability. Some individuals with 22q11 will develop mental health concerns; others will not. Physical health issues related to the heart, immune system, endocrine systems may present in adulthood or there may be ongoing issues throughout life. The information available on life expectancy is limited, however some studies indicate that individuals with 22q11.2 may often have a shorter than average expectancy.
Most studies indicate that the 22q11.2 deletion syndrome occurs in about 1 in 4,000 births, however many think it may be more common given that a high percentage of people with 22q11.2 deletion syndrome may never be diagnosed.
Reilly C, Murtagh L, Senior J. The Impact on the Family of Four Neurogenetic Syndromes: A Comparative Study of Parental Views. J Genet Couns. 2015 Jan 19.
Fung WL, Butcher NJ, Costain G, Andrade DM, et al. Practical guidelines for managing adults with 22q11.2 deletion syndrome. Genet Med. 2015 Jan 8. doi: 10.1038/gim.2014.175. [Epub ahead of print] Review.
McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 Deletion Syndrome. In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014. 1999 Sep 23 [updated 2013 Feb 28].
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