Diseases Studied
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All Diseases > Klinefelter syndrome
Klinefelter syndrome
Alternative Names: 47,XXY; XXY
Disease Category: Sex Chromosome Aneuploidy
Klinefelter syndrome, also known as 47,XXY or XXY, is a sex chromosome aneuploidy characterized by the presence of an additional X chromosome in males. Klinefelter syndrome affects approximately 1 in 800 boys.
Research groups studying this disease
Sex Chromosome Aneuploidy
Network for Advancing Sex Chromosome Aneuploidy Research Readiness (NASCARR)
Association for X and Y Chromosome Variations (AXYS)
The mission of AXYS is to help individuals with one or more extra X and/or Y chromosomes and their families to lead fuller, more productive lives.
Chromodiversity Foundation
The Chromodiversity Foundation aims change how the world perceives and supports genetic differences and to help kids and families navigate their unique journeys with confidence and understanding.
Living with XXY
The goal of Living with XXY is to change the way the world views Klinefelter syndrome/47,XXY by focusing on community, awareness, and positive traits.