Clinical trials: Klinefelter Syndrome (47, XXY)
Klinefelter Syndrome (47, XXY), Sex Chromosome Aneuploidy
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…
- Conditions
- Klinefelter Syndrome (47, XXY), Sex Chromosome Aneuploidy, Disorders of Sex Development (DSD), Sex Chromosome Disorders
- Trial name
- MOSAI-XX (NCT07885163)
- Where
- France
- Volunteers
- 257 people
- Sponsor
- Université Paris-Saclay
Klinefelter Syndrome, 47,XXY
Cardiometabolic Profiles of Boys With Klinefelter Syndrome
This study plans to learn more about how to measure the way the the body's energy system works in boys with Klinefelter syndrome, including the heart, lungs, muscles, and liver.
- Conditions
- Klinefelter Syndrome, 47,XXY, Sex Chromosome Aneuploidy, XXY Syndrome
- Trial name
- NCT02723305
- Testing
- No intervention
- Where
- United States
- Volunteers
- 31 people
- Sponsor
- University of Colorado, Denver
Down Syndrome (Trisomy 21), Edward's Syndrome (Trisomy 18)
Non-Invasive Determination of Fetal Chromosome Abnormalities
The overall significance of this study is to develop a laboratory developed test (LDT) to use a new marker in the maternal blood to better identify pregnancies that have a child with a chromosome abnormality such as Down syndrome…
- Conditions
- Down Syndrome (Trisomy 21), Edward's Syndrome (Trisomy 18), Patau Syndrome (Trisomy 13), Klinefelter Syndrome (47, XXY)
- Trial name
- NCT00891852
- Where
- 7 sites in United States
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Lenetix Medical Screening Laboratory