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Genetics and Psychopathology in the 22q11 Deletion Syndrome

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified October 2004 by UMC Utrecht.
Recruitment status was:  Recruiting
Netherlands Brain Foundation
Children's Hospital of Philadelphia
Information provided by:
UMC Utrecht Identifier:
First received: September 8, 2005
Last updated: October 12, 2006
Last verified: October 2004

The purposes of this study are to:

  1. study the nature and longitudinal course of psychiatric symptoms in children with the 22q11.2 deletion syndrome and
  2. identify genes that contribute to the occurrence of these symptoms.

Chromosome 22q11.2 Deletion Syndrome

Study Type: Observational
Study Design: Observational Model: Defined Population
Observational Model: Natural History
Time Perspective: Longitudinal
Time Perspective: Prospective
Official Title: Genetics and Psychopathology in the 22q11 Deletion Syndrome

Resource links provided by NLM:

Further study details as provided by UMC Utrecht:

Estimated Enrollment: 175
Study Start Date: October 2002
Estimated Study Completion Date: October 2012
  Show Detailed Description


Ages Eligible for Study:   8 Years to 20 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes

Inclusion Criteria:

  • 22q11.2 deletion confirmed with fluorescence in-situ hybridization (FISH)

Exclusion Criteria:

  Contacts and Locations
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Please refer to this study by its identifier: NCT00161109

Contact: Jacob AS Vorstman, M.D. 215 590 3863

United States, Pennsylvania
Children's Hospital of Philadelphia, Dpt of Genetics and Dpt of Child and Adolescent Psychiatry Recruiting
Philadelphia, Pennsylvania, United States, 19104
Contact: Jacob AS Vorstman, M.D.    215-590-2862   
UMC Utrecht, Dpt of Child and Adolescent Psychiatry Recruiting
Utrecht, Netherlands, 3508 GA
Contact: Herman van Engeland, M.D., Ph.D.    +31 30 2506362   
Sponsors and Collaborators
UMC Utrecht
Netherlands Brain Foundation
Children's Hospital of Philadelphia
Study Director: René S. Kahn, M.D., Ph.D. UMC Utrecht, The Netherlands
  More Information

Additional Information: Identifier: NCT00161109     History of Changes
Other Study ID Numbers: P03.0377C
Study First Received: September 8, 2005
Last Updated: October 12, 2006

Keywords provided by UMC Utrecht:
22q11.2 deletion syndrome
Deletion size
Candidate genes
Psychiatric symptoms
Neuropsychological impairments
Psychophysiological performance

Additional relevant MeSH terms:
22q11 Deletion Syndrome
DiGeorge Syndrome
Pathologic Processes
Craniofacial Abnormalities
Musculoskeletal Abnormalities
Musculoskeletal Diseases
Heart Defects, Congenital
Cardiovascular Abnormalities
Cardiovascular Diseases
Heart Diseases
Lymphatic Abnormalities
Lymphatic Diseases
Abnormalities, Multiple
Congenital Abnormalities
Chromosome Disorders
Genetic Diseases, Inborn
Parathyroid Diseases
Endocrine System Diseases processed this record on May 24, 2017