22q - An Overview (AKA - A Tiny Piece leading to a Big Picture) скачать в хорошем качестве

22q - An Overview (AKA - A Tiny Piece leading to a Big Picture)

Prof. McDonald-McGinn, who directs the world’s leading, largest, and longest standing comprehensive multidisciplinary “22q and You Center” providing care for children and families affected by chromosome 22q11.2 deletion and duplication syndromes at the Children’s Hospital of Philadelphia, takes the listener on a journey in understanding the history of chromosome 22q11.2 differences including the evolution of the “Same Name Campaign”, how these chromosome differences occur, how frequently they occur, how often they are familial and the chance of recurrence, the variability of associated features, long-term outcome, pediatric and adult healthcare guidelines, and future directions in supporting novel interventions including therapeutics. Prof. McDonald-McGinn brings close to 30 years of experience with 22q11.2 deletion syndrome to this presentation, which is most definitely a lecture not to be missed!