Mosaic trisomy 8
MONDO:0019867Mosaic trisomy 8 is a chromosomal disorder defined by the presence of three copies of chromosome 8 in some cells of the organism. It is characterized by facial dysmorphism, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.
Also known as: Mosaic trisomy type 8, Warkany syndrome, Mosaic trisomy chromosome 8, trisomy 8 mosaicism
2 clinical trials for this condition and its sub-types.
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New prenatal blood test aims to detect genetic disorders without invasive procedures
Diagnosis Recruiting nowThis study is testing a new blood test that looks for fetal cells in the mother's blood to detect genetic conditions like Down syndrome. The test will be compared to standard diagnostic methods such as amniocentesis or newborn testing. The study involves 1,000 pregnant individual…
Sponsor: BillionToOne Inc. • Aim: Diagnosis
Last updated Jun 27, 2026 13:06 UTC
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Scientists launch deep dive into rare genetic condition behind chronic inflammation
Knowledge-focused Recruiting nowThis study aims to better understand trisomy 8 mosaicism, a rare genetic condition where some cells have an extra copy of chromosome 8, and its link to autoinflammatory disease (TRIAD). Researchers will follow affected individuals and their healthy relatives over time, collecting…
Sponsor: National Institute of Allergy and Infectious Diseases (NIAID) • Aim: Knowledge-focused
Last updated Aug 18, 2026 07:00 UTC