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Patient Recruitment

Chromosome Abnormalities Involving the Sex Chromosomes

a photo collage of various faces of people from young to old with the National Human Genome Research Institute logo weaved throughout it

Affected Individuals Needed for Study

The National Human Genome Research Institute of the National Institutes of Health (NIH) are seeking adults with genetic abnormalities affecting the sex chromosomes. Researchers want to better understand how these conditions affect overall health and wellbeing.

Eligible participants:

  • Are adults
  • Have a variation of the Y chromosome (such as a Y microdeletion)

  • Have a difference in the number of sex chromosomes, such as but not limited to Klinefelter syndrome, Turner syndrome, 47,XYY, 47,XXX

During the study, you will:

  • Visit the NIH in Bethesda, Maryland for about 5 days
  • Have a medical exam and imaging studies, such as an MRI and an ultrasound of your heart
  • Have bloodwork, some of which will be stored for future research
  • Have the option to receive genetic and medical counseling
  • Receive compensation for your participation

Location: The NIH Clinical Center, America's research hospital, is conveniently located on the Metro Red Line (Medical Center stop) in Bethesda, Maryland. Parking is provided at no cost.

For more information:
Call: 1-800-411-1222
TTY: 1-866-411-1010
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Or go online:
Refer to study # 12-HG-0181

Department of Health and Human Services
National Institutes of Health Clinical Center (CC)
National Human Genome Research Institute (NHGRI)

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This page last updated on 03/07/2019

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