News 2022

  • Friday 14th January 2022

    Importance of prompt diagnosis for individuals affected by 22q11.2 deletion syndrome

    "Prompt diagnosis can play an important role in improving the quality of life for individuals affected by the chromosome 22q11.2 deletion syndrome. The 22q11.2 community therefore supports early identification including via prenatal and neonatal screening," said Prof. Donna McDonald-McGinn, Chair of the 22q11.2 Society, Director of the 22q and You Center, Chief of the Section of Genetic Counseling, and Associate Director of Clinical Genetics at the Children's Hospital of Philadelphia and Clinical Professor of Pediatrics at the Perelman School of Medicine of the University of Pennsylvania.

    "Importantly, prenatal suspicion of 22q11.2 deletion syndrome allows for evaluation, confirmatory testing, and delivery at high-level healthcare facilities where neonates have access to potentially life-saving interventions including cardiac surgery, as well as treatment for other key features such as low calcium, immune deficiency, feeding, swallowing, and breathing issues, all with the goal of optimizing long-term outcome while obviating the protracted diagnostic odyssey frequently traversed by families."
  • Friday 7th January 2022

    Scholarship Opportunity: The ACPA Randall/LaRossa College Scholarships

    The Randall/LaRossa College Scholarship Fund was established in 2009 to honor Peter Randall, MD and Don LaRossa, MD from the Children's Hospital of Philadelphia (CHOP). Both of them were pioneers in surgery for palatal abnormalities in children with 22q11.2 deletion syndrome.

    The American Cleft Palate-Craniofacial Association awards three college scholarships annually to outstanding students born with cleft or craniofacial conditions. Please visit the scholarship website for more information and to submit an application. The deadline to apply is February 4th, 2022.
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