22q and You Center News

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.

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22Q11.2 Deletion Syndrome: Common but Underrecognized

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.

Researchers Show How Mitochondrial Function Influences Schizophrenia Status in Patients with Genetic Disorder

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.

Study Uses Polygenic Risk Scores to Determine Schizophrenia Risk in 22q11.2DS

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.

CHOP Researchers Join NIH Consortium to Study Rare Genetic Disorders Involved in Psychiatric Conditions

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.

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22q and You Center News

22Q11.2 Deletion Syndrome: Common but Underrecognized

Researchers Show How Mitochondrial Function Influences Schizophrenia Status in Patients with Genetic Disorder

Study Uses Polygenic Risk Scores to Determine Schizophrenia Risk in 22q11.2DS

CHOP Researchers Join NIH Consortium to Study Rare Genetic Disorders Involved in Psychiatric Conditions

CHOP Experts from 22q and You Center Update Multiple Facets of the Condition in Special Issue of Journal

CHOP-Penn Receive 22q11.2 Society Inaugural Special Service Award

Global Meeting Draws on CHOP Expertise in Chromosome Deletion Syndrome