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Child Psychiatry Branch

Klinefelter Syndrome Study

Klinefelter Syndrome Study (KS) and Other Sex Chromosome Variations (SCV)

Ongoing Study at NIMH:

X-Y Graphic

The Child Psychiatry Branch of the National Institute of Mental Health is conducting a study of the effects of sex chromosomes on brain development. This study hopes to determine whether brain-imaging studies of children with sex chromosome variations will help uncover core biological features of these chromosomal conditions.

Male and female volunteers aged 5-25 with a sex chromosome variation (XXY, XYY, XXYY, XXXY, XXXXY, XXX) are needed to participate in this study.

We are not currently recruiting new families for this study as we are focusing on bringing back families who have already participated for their follow-up visits.

Participation involves coming to the National Institutes of Health (NIH) in Bethesda, Maryland (just outside of Washington D.C.) for a one-day visit, which will include:

  • a brief medical history interview
  • a brief physical exam
  • cognitive testing
  • an optional blood draw for genotyping
  • and a brain magnetic resonance imaging (MRI) scan (the MRI scan provides detailed images of the brain without the use of radiation)

For participants who live outside of the Washington D.C. area, transportation and lodging for a 2-night stay will be provided for the child and two parents. In addition, each participant will receive a summary of test results and a souvenir photo of his brain.

For more information about the NIH Sex Chromosome Variations Study, contact:

Jonathan Blumenthal, M.A., Associate Investigator
Email: jonathan.blumenthal@nih.gov
NIMH Child Psychiatry Branch
Building 10, Room 4C110
Bethesda, MD 20892-1367
Phone: 301-435-4516

Links Disclaimer:

Listing of the site below does not imply endorsement by the US Government, NIH, NIMH, DIRP, or the Child Psychiatry Branch (CHP). Furthermore, the US Government, NIH, NIMH, DIRP, CHP, and their employees and contractors do not make any warranty, expressed or implied, with respect to documents available from the site.

Support Group:

Association for X and Y Chromosome Variations (AXYS)