Meeting 22q11.2 Deletion Syndrome

We would like to invite you for the meeting entitled ‘Current insights in somatics within the 22q11.2 Deletion Syndrome’. The 22q11.2 deletion syndrome is the most common microdeletion syndrome. The meeting will focus on the most recent insights and current research questions involved in this syndrome.

More information about the meeting

The 22q11.2 deletion syndrome is characterized by broad phenotypic heterogeneity, which includes both psychologic and somatic aspects. During the meeting the latest insights on somatics of patients with the 22q11.2 deletion syndrome are shared. Moreover, together with the patient society, we will discuss the current research questions regarding this vulnerable group of patients.


Sign up here

Practical information

Date and time
January 23, 2020
09.30 am - 2.30 pm

Free of charge

The meeting takes place at UMC Utrecht in the Auditorium Q-building. Follow route Q from the main entrance of the UMC Utrecht. When you arrive at the Q-building, the route to the Auditorium will be indicated with signs.

UMC Utrecht address:
Heidelberglaan 10
3584 CX Utrecht


09.00 - 09.30


09.30 - 09.35

Prof. Castelein
Full Professor department of orthopaedic surgery, UMC Utrecht

09.35 - 10.00

What's new with 22q11.2DS, an overview of samtics in 22q11.2DS
Prof. McDonald-McGinn
Clinical Professor of Pediatrics, Perelman School of Medicine of the University of Pennsylvania, Director, 22q and You Center, Children’s Hospital of Philadelphia.

10.00 - 10.20

Multidisciplinary approach and holistic care in 22q11.2DS: from infancy to adolescence
Prof. Swillen
Full Professor department of Human Genetics, KU Leuven

10.20 - 10.40

Medical outcomes in adults with 22q11.2DS
Dr. Boot
Physician for people with intellectual disability, ’s Heeren Loo

10.45 - 11.15

Coffee break

11.15 - 11.35

Velocardiofacial syndrome; the role of the plastic surgeon
Dr. Mink van der Molen
Reconstructive surgeon, WKZ/UMC Utrecht

11.35 - 11.55

Where Psychiatry and Orthopedics meet
Dr. Breetvelt
Psychiatrist, The Hospital For Sick Children Toronto

12.00 - 13.00Lunch break
13.00 - 13.25

The 22q11.2 deletion syndrome as a model for idiopathic scoliosis
Drs. Jelle Homans
PhD candidate department of orthopedic surgery, UMC Utrecht

13.25 - 13.30Brainstorm session
Dr. Houben
Pediatrician, WKZ
13.30- 13.45Current somatic research questions a perspective from parents
13.45 - 14.30Discussion on the current somatic research questions, how and where to answer them? 
14.30 - 15.00End of the meeting

This meeting is sponsored by the Nationale Wetenschaps Agenda:

Contact us

For more information or if you have any questions, please contact Jelle Homans.