Clinical Research Directory

Clinical, Biochemical, and Cytogenetic Heterogeneity in Mosaic 46,XX/47,XXY Sex Chromosome Aneuploidy

Mosaic sex chromosome aneuploidy 47,XXY/46,XX is an exceptionally rare variant within the spectrum of Klinefelter syndrome. Available data remain limited, especially regarding adult phenotype and long-term characteristics, and no robust comparative data with non-mosaic 47,XXY Klinefelter syndrome are currently available. This retrospective monocentric comparative study is designed to describe the clinical, biochemical, cytogenetic, gonadal, anthropometric, and socio-professional characteristics of adults with 47,XXY/46,XX mosaicism. In addition, the study is intended to compare these characteristics with those of a homogeneous cohort of individuals with non-mosaic 47,XXY Klinefelter syndrome and with previously published case reports, in order to improve phenotypic characterization of this rare chromosomal condition.

Generating Advancements Through Longitudinal Analysis in X and Y Variations (GALAXY)

GALAXY is a registry research study that plans to learn more about individuals with X\&Y variations (also called sex chromosome aneuploidies) through collecting information from medical records.This includes genetic tests, imaging, medications, and more for hundreds of patients seen at a number of clinics across the US. The purpose of the GALAXY Registry is to collect and store this information with the overall goal to improve health outcomes in individuals with X\&Y variations and the care they receive.