Network for Advancing Sex Chromosome Aneuploidy Research Readiness (NASCARR)
Grant number: U54 HD121580-01
Principal Investigator: Nicole Tartaglia, MD
Lead Institution: Children's Hospital Colorado Anschutz Medical Campus
Diseases Studied
- Non-mosaic Turner syndrome (TS)
- TS due to structural X chromosome abnormalities (rings, deletions, isochromosomes, translocations) with or without 45,X mosaicism
- Mosaic TS 45,X/46,XX;6
- Monosomy X with Y mosaicism; Mixed gonadal dysgenesis; TS with Y material (structurally normal or abnormal Y)
- Trisomy X; Triple X; XXX; Triplo-X syndrome
- Non-mosaic Klinefelter syndrome
- Mosaic Klinefelter syndrome 46,XY/47,XXY 1 in 5,000 males11 33,000 11,500 NA
- XXYY syndrome
- XXXY syndrome
- XYY syndrome
- XYYY syndrome, Triple Y syndrome
- Tetrasomy X; Tetra-X 54
- Pentasomy X; Penta-X
- XXXXY syndrome; 49’ers
- XXXYY syndrome
- XYYYY syndrome
- XXYYY syndrome
- Other SCA mosaicism
Funding Statement
The Network for Advancing Sex Chromosome Aneuploidy Research Readiness (NASCARR) is part of the Rare Diseases Clinical Research Network (RDCRN), which is funded by the National Institutes of Health (NIH) and led by the National Center for Advancing Translational Sciences (NCATS) through its Division of Rare Diseases Research Innovation (DRDRI). NASCARR is funded under grant number U54HD121580 as a collaboration between NCATS, the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), and the National Human Genome Research Institute (NHGRI). This website is hosted by the network’s Data Management and Coordinating Center at Cincinnati Children’s Hospital Medical Center, which is funded by NCATS and the National Institute of Neurological Disorders and Stroke (NINDS) under grant number TR002818.