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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.
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New findings set stage for future targeted therapies for patients with 22q11.2 deletion syndrome, who are 25 times more likely to develop schizophrenia.
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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.
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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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CHOP volunteers make camp a reality for many kids with special medical needs. They not only keep them healthy, but they also take part of the activities and enjoy seeing kids being kids.
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Dozens of CHOP clinicians and researchers updated scientific knowledge of chromosome 22q11.2 deletion syndrome in a special issue of a genetics journal.
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CHOP and Penn were honored for outstanding, long-standing, exemplary and unwavering commitment and contributions to the chromosome 22q11.2 community since 1992.
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World experts gather at CHOP-sponsored meetings in Italy to exchange information on the gene disorder chromosome 22q11.2 deletion syndrome