Our staff includes providers who specialize in 22q11.2 deletion and duplication syndrome. We have evaluated more than 1,500 patients at the 22q and You Center.
Aug 20, 2025
Researchers found that mitochondrial dysfunction in the blood-brain barrier (BBB) may lead to neuropsychiatric disease in some patients with 22qDS. The researchers also demonstrated that a class of FDA-approved cholesterol drugs could potentially be repurposed to treat this dysfunction.
Dec 7, 2021
Five-year-old “Peter” presented to Clinical Genetics following evaluations by 27 subspecialists who were unable to provide his 2 physician parents with a unifying diagnosis to explain his seemingly disparate constellation of findings. But Peter’s parents were relentless in attempting to resolve their son’s diagnostic odyssey.
May 19, 2021
New findings set stage for future targeted therapies for patients with 22q11.2 deletion syndrome, who are 25 times more likely to develop schizophrenia.
Nov 9, 2020
A new study involving CHOP researchers looked at genetic variants across the genome to determine risk levels for developing schizophrenia in patients with 22q11.2DS.
Mar 2, 2020
The consortium will collect data on psychiatric illness and genetic variants associated with an increased risk for neurodevelopmental/behavioral differences, such as those associated with the chromosome 22q11.2 deletion syndrome, with the aim of using the findings to improve patient care.
Dec 19, 2018
Dozens of CHOP clinicians and researchers updated scientific knowledge of chromosome 22q11.2 deletion syndrome in a special issue of a genetics journal.
Nov 16, 2018
CHOP and Penn were honored for outstanding, long-standing, exemplary and unwavering commitment and contributions to the chromosome 22q11.2 community since 1992.
Jul 18, 2016
World experts gather at CHOP-sponsored meetings in Italy to exchange information on the gene disorder chromosome 22q11.2 deletion syndrome