WHAT IS 22Q SYNDROME?| With Dr. Isaiah Crevier.

During this video, you will learn what 22q11.2 deletion syndrome is, as well as some of the possible side effects.

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What is 22q syndrome?

This is a broader term for 22q11.2 deletion syndrome. Some areas that might help us understand how 22q syndrome presents is that it does encompass other disorders. These include ones such as DiGeorge syndrome, Velocardiofacial, and others having this same genetic cause.

What happens is there is a small part of chromosome 22 missing. This deletion of genetic code is specified at location 22q11.2, hence the name "22q". Each person has two copies of chromosome 22, one inherited from each parent. One copy of chromosome 22 is missing, a segment that includes an estimated 30 to 40 genes. Many of these genes have not been clearly identified and aren't well understood. The region of chromosome 22 that's deleted is known as 22q11.2 deletion syndrome.

A person born with this deletion will have the same genetic make up as others with 22q, however it can present itself differently and its features may vary. Medical problems that are commonly associated with 22q include heart murmurs, bluish skin due to the poor circulation of oxygen-rich blood (cyanosis) as a result of a heart defect, poor immune system function, a gap in the roof of the mouth (called a cleft palate) or other problems with the palate, delayed development with emotional and behavioral problems, low levels of calcium in the blood and what complications might arise from that, breathing problems, difficulty feeding, failure to gain weight or gastrointestinal problems.

The severity and number of symptoms a person might have with 22q syndrome may be different. However, the common theme is that almost everyone with this will need treatment from specialists in a variety of fields. 22q 11.2 deletion syndrome serves as an example of a genetic syndrome that is not easy to manage at all stages: diagnosis, consultation and living with.

Citations:

https://www.healthline.com/health/digeorge-syndrome

https://www.mayoclinic.org/diseases-conditions/digeorge-syndrome/symptoms-causes/syc-20353543

McDonald-McGinn DM, Hain HS, Emanuel BS, Zackai EH. 22q11.2 Deletion Syndrome. 1999 Sep 23 [updated 2020 Feb 27]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2022. PMID: 20301696.

Goldmuntz E. 22q11.2 deletion syndrome and congenital heart disease. Am J Med Genet C Semin Med Genet. 2020 Mar;184(1):64-72. doi: 10.1002/ajmg.c.31774. Epub 2020 Feb 12. PMID: 32049433.

Qin X, Chen J, Zhou T. 22q11.2 deletion syndrome and schizophrenia. Acta Biochim Biophys Sin (Shanghai). 2020 Dec 11;52(11):1181-1190. doi: 10.1093/abbs/gmaa113. PMID: 33098288.
Karbarz M. Consequences of 22q11.2 Microdeletion on the Genome, Individual and Population Levels. Genes (Basel). 2020 Aug 22;11(9):977. doi: 10.3390/genes11090977. PMID: 32842603; PMCID: PMC7563277.

- Dr. Isaiah Crevier