Sex Chromosome Aneuploidy Study

Principle Investigators: Armin Raznahan- NIMH IRP; Srishti Rau- Children’s National Hospital

Grant: Section on Developmental Neurogenomics

Project Description: Sex Chromosome Aneuploidies (SCAs) arise when someone has an atypical number of X and/or Y-chromosomes beyond the expected female (XX) or male (XY) chromosomes. These conditions are associated with an increased risk for developmental difficulties impacting thinking and behavior. Our study aims to better understand the neurobiology of SCAs to provide insights into the biology of sex-differences, genetic regulation of brain organization, and mechanisms of genetic risk for common psychiatric syndromes. We do this by completing comprehensive evaluations with individuals with SCA and their family members including brain MRI, cognitive testing, psychiatric assessment, and autism assessment.

Who can participate? 5-25 year olds with a range of X and Y variations (e.g., XXY, XYY, XXX, XXYY).

Contact: For further information, please contact Jonathan Blumenthal, MA, at 301-435-4516 or jb364e@nih.gov