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Human Genetics Branch

Sex Chromosome Aneuploidy Study

Join a Study

If you would like to learn more about becoming part of our ongoing studies of brain development in health and sex chromosome aneuploidy, please contact Jonathan Blumenthal, MA, at 301-435-4516 or jb364e@nih.gov.

Sex Chromosome Aneuploidy

Sex Chromosome Aneuploidies (SCAs) arise due to carriage of an atypical number of X and/or Y-chromosomes beyond the typical female (XX) or male (XY) complement. These conditions are associated with an increased risk for developmental difficulties impacting cognition and behavior. The Developmental Neurogenomics Unit is engaged in a series of studies that aim to better understand the neurobiology of SCAs as important yet understudied neurogenetic disorders in their own right. This effort also provides insights into the biology of sex-differences, genetic regulation of brain organization, and mechanisms of genetic risk for common psychiatric syndromes.

Recent analyses within this study have focused on:

  1. Better understanding the changes in cognition, brain anatomy, and risk for mental illness that can accompany each SCA.
  2. Combining information across various SCAs to specify the overlapping and distinct effects of X and Y-chromosome dosage on human brain development.
  3. Complementing studies in patient populations with parallel neuroimaging and genomic research in mice with SCA.

We are now significantly expanding our earlier research in SCA, and actively recruiting people with a range of X- and Y-chromosome variations for more detailed studies of gene function, brain organization, cognition and mental health in SCA.

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

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Support Group

Association for X and Y Chromosome Variations (AXYS)