Abstract
ABSTRACTSex chromosome aneuploidies (SCAs) are a family of genetic disorders that result from an atypical number of X and/or Y chromosomes. SCAs are the most common chromosomal abnormality, affecting ∼1/400 live births, yet are often underdiagnosed, leading to over-representation of more severely impacted individuals in many clinical studies. In addition to this ascertainment bias, existing work in SCAs has also been limited by low geographic and demographic diversity. To address these limitations, we have created the Generating Advancements with Longitudinal Analysis in X and Y variations (GALAXY) Registry. To date, GALAXY has accrued 295 verified SCA participants. Next steps include targeted recruitment of minoritized individuals regarding race, ethnicity, and socioeconomic status, and continuing engagement with the SCA community.
Publisher
Cold Spring Harbor Laboratory
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