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

U.S., Oct. 22 -- ClinicalTrials.gov registry received information related to the study (NCT07885163) titled 'Clinical, Biochemical, and Cytogenetic Heterogeneity in Mosaic 46,XX/47,XXY Sex Chromosome Aneuploidy' on Feb. 03.

Brief Summary: 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 ...