Researchers Find 22q to be as Common as Down Syndrome

Jul 21, 2015, 09:00 ET from The International 22q11.2 Foundation

VOORHEES, N.J., July 21, 2015 /PRNewswire/ -- A new study, recently published in the Journal Prenatal Diagnosis, and based on testing in over 9500 pregnancies, suggests that the 22q11.2 deletion and duplication syndromes are as common as Down syndrome. This marks a dramatic increase in our understanding of the prevalence of both 22q conditions, caused by either a missing (deletion) or extra (duplication) piece of chromosome 22. A prevalence of more than one in one thousand indicates that approximately 5 million or more individuals worldwide are impacted including more than 300,000 people in the U.S.

The new information results from studies using prenatal testing [chorionic villous (CVS) and amniotic fluid (AF) samples] analyzed in in a number of laboratories throughout the world. The result was a prevalence rate of 1/992 for the 22q11.2 deletion and 1/850 for the duplication.

22q11.2 deletion syndrome was previously known by a number of clinical names such as DiGeorge syndrome (DGS), velocardiofacial syndrome (VCFS), conotruncal anomaly face syndrome (CTAF), Opitz G/BBB syndrome and Cayler cardiofacial syndrome before the underlying chromosomal cause was identified.

22q11.2 deletion syndrome has the potential to affect almost every system in the body and can cause a wide range of health problems. No two people are ever exactly alike, even when they have the same deletion on chromosome 22q or when inherited from a parent. Though not always present, the key characteristics of this syndrome include combinations and varying degrees of heart defects, palate differences, difficulties fighting infection, feeding and swallowing problems, growth delay, kidney problems, hearing loss, low calcium and other endocrine issues, cognitive, developmental and speech delays, behavioral, emotional and psychiatric differences (ADHD, autism, anxiety, etc.) and psychiatric illness such as schizophrenia in a subset of adults.

22q11.2 duplication syndrome often results in similar birth defects, such as congenital heart defects and cleft palate, developmental differences such as autism, and overgrowth. However, findings vary considerably from person to person and some individuals have no associated problems.

The ­International 22q11.2 Foundation was founded in 2003 to improve detection and awareness, provide the latest information to families, support continuing research, improve available treatment strategies, and provide individuals with the syndrome support in leading successful and productive lives. Learn more at

Sheila Kambin, MD


SOURCE The International 22q11.2 Foundation