Session Description
Recurrent deletions of chromosome sub-band 22q11.2 are estimated to occur as frequently as 1 in 3,000-6,000 live births and 1 in 1,000 unselected fetuses (those without congenital heart disease or palatal anomalies). Chromosome 22q11.2 deletions result in a syndrome that is associated with a broad range of phenotypic features including congenital heart disease, palatal abnormalities, gastrointestinal differences, skeletal anomalies, immune dysfunction, endocrinopathies, cognitive deficits and behavioral problems/psychiatric illness. This webinar will review the clinical presentation of 22q11.2 deletion syndrome in diverse populations. Additionally, it will explore the use of massively parallel sequencing technologies to uncover Mendelian modifiers of this common genomic disorder.
Learning Objectives
At the conclusion of the series, participants should be able to:
Session Learning Objectives
At the conclusion of this session, participants should be able to:
Faculty:
Donna M. McDonald-McGinn, MS, LCGC
Clinical Professor of Pediatrics, Perelman School of Medicine of the University of Pennsylvania
Director, 22q and You Center, Chief, Section of Genetic Counseling, Associate Director, Clinical Genetics Center, The Children’s Hospital of Philadelphia
Ian Campbell, MD, PhD
Chief Genetics Resident, The Children’s Hospital of Philadelphia
Beata Nowakowska, PhD
Director of Cytogenetics, The Institute of Mother and Child Warsaw, PolandEducational Credits are not offered
Target Audience
Off-label Drug Use statement
When an off-label use of a product, or an investigational use not yet approved for any purpose, is discussed during an educational activity, the accredited sponsor shall require the speaker to disclose that the product is not labeled for the use under discussion, or that the product is still investigational. Discussions of such uses shall focus on those uses that have been subject of objective investigation.
Disclosures of Financial Relationships
Staff - American College of Medical Genetics and Genomics
The following have nothing to disclose.
Jane Radford, MHA, CHCP
Claudia Barnett
Maximilian Muenke, MD, FACMG
Presenter Disclosures
Has no relevant financial relationships to disclose.
Director of Cytogenetics, The Institute of Mother and Child Warsaw, Poland
Has no relevant financial relationships to disclose
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