View Only- Cloning 22q - What’s it to You?-February 19 2020 MP4

Video Transcription

Video Summary

The video is a presentation from the ACMG Genomics Case Conference, discussing various aspects of the 22q11.2 deletion syndrome. The speakers provide an overview of the syndrome and its prevalence, as well as its associated features and medical challenges. They discuss the genetic factors involved, including the specific genes and regions affected by the deletion. The speakers also highlight the importance of early diagnosis and comprehensive care for individuals with this syndrome. They mention the potential for additional genetic conditions and the need for additional testing beyond the initial diagnosis. The presentation concludes with information about ongoing research and the need for further study on the syndrome. The speakers include Dr. Ian Campbell, Chief Genetics Resident at Children's Hospital of Philadelphia, Donna McDonnell-McGinn, Director of the 22Q&U Center at Children's Hospital of Philadelphia, and Beata Nowakowska, Head of the Cytogenetic Laboratory at Warsaw Institute of Mother and Child. The video was produced by the ACMG Education Committee and is intended for educational purposes.

Keywords

ACMG Genomics Case Conference

22q11.2 deletion syndrome

prevalence

associated features

genetic factors

early diagnosis

comprehensive care

additional testing

ongoing research