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22q - What’s it to You?


This is a virtual event, accessible online and over the phone. Access instructions will be provided after registration.


The Children's Hospital of Philadelphia


Genomic case conferences are live webinars that focus on the adaptation of exome or genome sequencing technology in clinical care. During the ACMG Genomics Case Conferences, expert(s) from select institutions will present and lead discussions on an intriguing, complex and/or difficult patient cases in the area of genomics. Genomic Case Conferences are free for Members/Trainees.

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.

Target Audience

  1. Clinical geneticists; genetic counselors; pediatric, obstetric, and maternal-fetal specialists; and all medical practitioners who are providing comprehensive diagnostic, management, and counseling services for patients with, or at risk for, genetically influenced health problems.
  2. Laboratory directors and technicians who conduct genetic testing, researchers involved in the discovery of genetic disorders and treatments and any healthcare and public health professionals who have an in interest medical and clinical genetics and genomics.

Learning Objectives

At the conclusion of the series, participants should be able to:

  1. Describe the clinical utility of whole exome/whole genome sequencing tests
  2. Identify clinical indications for whole exome/whole genome sequencing
  3. List determinants used to assess the probability of a variant’s pathogenicity
  4. Elaborate on the importance of pre-test counseling and consent

Session Learning Objectives

At the conclusion of this session, participants should be able to:

  1. Identify the clinical presentation of 22q11.2 deletion syndrome.
  2. Recognize the craniofacial features of 22q11.2 deletion syndrome in diverse populations
  3. Review the clinical utility of massively parallel sequencing to define Mendelian genetic modifiers of classic genomic disorders.
  4. Discuss the psychosocial impact of uncovering additional genetic diagnoses on patients and their caregivers.

Continuing Education Information


The American College of Medical Genetics and Genomics is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.


The American College of Medical Genetics and Genomics designates this live activity for a maximum of 1 AMA PRA Category 1 CreditTM. Physicians should claim only the credit commensurate with the extent of their participation in the activity.


1.  ACMG follows the ACCME policy on Content Validation for CME activities, which requires:
a)  All recommendations involving clinical medicine must be based on evidence that is accepted within the profession of medicine as adequate justification for their indications and contraindications in the care of patients.
b)  All scientific research referred to, reported or used in CME in support or justification of patient care recommendations must conform to the generally accepted standards of experimental design, data collection and analysis.

2.  Activities that fall outside the definition of CME/CE; “Educational activities that serve to maintain, develop, or increase the knowledge, skills, and professional performance and relationships that a physician uses to provide services for patients, the public, or the profession” (source: ACCME and AMA) will not be certified for credit. CME activities that promote recommendations, treatment, or manners of practicing medicine or pharmacy that are not within the definition of CME/CE or, are known to have risks or dangers that outweigh the benefits or, are known to be ineffective in the treatment of patients.

3.  Presentations and CME/CE activity materials must give a balanced view of therapeutic options; use of generic names will contribute to this impartiality.  If the CME/CE educational materials or content includes trade names, where available, trade names from several companies must be used.


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.


The ACMG supports medical information privacy. While the ACMG is not a “covered entity” under HIPAA 1996 and therefore is not required to meet these standards, ACMG wishes to take reasonable steps to ensure that the presentation of individually identifiable health information at ACMG-sponsored events has been properly authorized. All presenters have completed a form indicating whether they intend to present any form of individually identifiable healthcare information. If so, they were asked either to attest that a HIPAA-compliant consent form is on file at their institution, or to send ACMG a copy of the ACMG HIPAA compliance form. This information is on record at the ACMG Administrative Office and will be made available upon request.


ACMG educational programs are designed primarily as an educational tool for health care providers who wish to increase their understanding of the application of genomic technologies to patient care. The ACMG does not endorse, or recommend the use of this educational program to make patient diagnoses, particular by individuals not trained in medical genetics. Adherence to the information provided in these programs does not necessarily ensure a successful diagnostic outcome. The program should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed at obtaining the same results. In determining the propriety of any specific procedure or test, a healthcare provider should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen.

Financial Disclosures

Disclosure Statement

The American College of Medical Genetics and Genomics has implemented a process where everyone who is in a position to influence and/or control the content of a continuing education activity must disclose all relevant financial relationships with any commercial interest within the past 12 months and any conflicts must be resolved prior to the activity. Participants of educational programs must be informed of an organizer’s and/or a presenter’s academic and professional affiliations and existence of any relevant financial relationship a presenter has with any proprietary entity producing heath care goods or services consumed by, or used on patients, with the exemption of non-profit or government organization and non-health care related companies. The intent of this disclosure is not to prevent a speaker from making a presentation. This policy allows the participant to be fully knowledgeable in evaluating the information being presented. All disclosures have been reviewed by the COI sub-committee conflicts of interest are resolved. Disclosure includes any relevant relationship that may potentially bias the planning of the continuing education activity or may potentially bias one’s presentation or which, if known, could give the perception of bias.


Planning Committee
Anne Slavotinek, MB.BS., PhD, FACMG
ACMG Education Committee Chair and Liaison to the Program Committee
Disclosures: Grant/Research Support National Eye Institute and National Institutes of Health; Royalties: Oxford University Press, UptoDate

John Bernat, MD, PhD, FACMG
University of Iowa
Disclosures: Grant/research support: Idorsia, Pfizer, Protalix, Sanofi Genzyme, Takeda. Advisory boards: Sanofi Genzyme, Takeda

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 Disclosure
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
Disclosures: Has no relevant financial relationships to disclose.

Ian Campbell, MD, PhD
Chief Genetics Resident, The Children’s Hospital of Philadelphia
Disclosures: Has no relevant financial relationships to disclose.

Beata Nowakowska, MD, PhD
Director of Cytogenetics, The Institute of Mother and Child Warsaw, Poland
Disclosures: Has no relevant financial relationships to disclose.

Participation Instructions

  1. Register
  2. Continuing education credit claim
    1. Complete the course education evaluation
    2. Claim certificate

Technical Requirements

All you need to access our online conferencing is access to the Internet. No software downloads required.

Mac and PC Compatible. Our webinars work equally well on PCs and Macs, in Internet Explorer or Firefox (or any other web browser you may use).

Continuing Education

1.0 CME
Production Date:


*You cannot purchase or claim educational credits after the webinar.