Studying the clinical spectrum

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Research participation

Both children and adults with a 15q13.3 microdeletion (BP4-BP5) may be included in the study. Also family members, having a 15q13.3 deletion, with and without associated clinical features are welcome to join the study.

Please note that only clinicians can submit clinical information on children or adults with a 15q13.3 microdeletion. In the near future, a parental survey will also be implemented on this website.

We request clinical information and medical photographs to obtain a better insight into the clinical variability of the 15q13.3 microdeletion. Clinical information will be collected via this website. In the future, we may also invite you to participate in molecular studies (blood withdrawal from individuals with 15q13.3 deletion to establish cell lines) to gain more knowledge on the molecular pathogenesis of the condition.

Instructions for the clinician involved:

  1. Please provide study information  to the parents/guardians
  2. Request written consent (see form) for:
    a. The use and storage of medical information with or without photographs
    b. Permission for using DNA/blood/cell lines from the proband and parents for research purposes
    (consent may be given for a) and/or b)
  3. Enter the clinical information using the submission interface
  4. E-mail photographs and a copy of the consent form to