Trisomy
MONDO:0700065A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number.
Also known as: chromosomal triplication
24 clinical trials for this condition and its sub-types, 1 tagged with Trisomy itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
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Sub-types of Trisomy
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Trisomy 21 9 trials · 10 incl. sub-types
2 sub-types
- Mosaic trisomy 21 1 trial
- Complete trisomy 21 0 trials
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Klinefelter syndrome 9 trials
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Trisomy 13 4 trials
2 sub-types
- Complete trisomy 13 0 trials
- Mosaic trisomy 13 0 trials
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Trisomy 18 3 trials
2 sub-types
- Complete trisomy 18 0 trials
- Mosaic trisomy 18 0 trials
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Trisomy X 3 trials
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47,XYY syndrome 2 trials
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Chromosome 8, trisomy 0 trials · 1 incl. sub-types
1 sub-type
- Mosaic trisomy 8 1 trial
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Chromosome 16 trisomy 0 trials
1 sub-type
- Mosaic trisomy 16 0 trials
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Chromosome 20 trisomy 0 trials
1 sub-type
- Mosaic trisomy 20 0 trials
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Mosaic trisomy 1 0 trials
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Mosaic trisomy 10 0 trials
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Mosaic trisomy 12 0 trials
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Mosaic trisomy 14 0 trials
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Mosaic trisomy 15 0 trials
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Mosaic trisomy 17 0 trials
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Mosaic trisomy 2 0 trials
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Mosaic trisomy 3 0 trials
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Mosaic trisomy 4 0 trials
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Mosaic trisomy 5 0 trials
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Mosaic trisomy 6 0 trials
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Mosaic trisomy 7 0 trials
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Mosaic trisomy 9 0 trials
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Trisomy 22 0 trials
1 sub-type
- Mosaic trisomy 22 0 trials
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Age matters: study hopes to boost fertility in klinefelter syndrome
Disease control CompletedThis study looked at 141 men with Klinefelter syndrome (47,XXY) to see if younger men (ages 15–22) have a better chance of finding sperm through testicular biopsy compared to older men (ages 23–55). Participants provided two semen samples, and if no sperm were found, they underwe…
Sponsor: Hospices Civils de Lyon • Aim: Disease control
Last updated Jun 27, 2026 08:05 UTC
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Blood test may untangle vanishing twin puzzle to screen the survivor
Diagnosis CompletedThis study is testing whether a blood test can tell apart the DNA from a vanishing twin and the living twin in pregnancies where one twin stops developing. The goal is to improve non-invasive prenatal screening for chromosome conditions like trisomy 21, 18, and 13 in the survivin…
Sponsor: Natera, Inc. • Aim: Diagnosis
Last updated Aug 19, 2026 00:00 UTC
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Blood test could replace risky amniocentesis for down syndrome diagnosis
Diagnosis CompletedThis study tested a new blood test to diagnose Down syndrome (trisomy 21) in pregnant women without the risks of invasive procedures like amniocentesis. Researchers collected blood samples from 150 pregnant women at high risk and analyzed fetal cells. The goal is to provide a saf…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Diagnosis
Last updated Jun 27, 2026 12:03 UTC
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Simple blood test could replace risky prenatal procedures for down syndrome
Diagnosis CompletedThis study tested a new blood test that looks at fetal DNA in the mother's blood to detect Down syndrome (trisomy 21) as early as the first trimester. Researchers enrolled 976 pregnant women at high risk and compared the blood test results to standard invasive methods. The goal w…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Diagnosis
Last updated Jun 27, 2026 08:11 UTC
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Father's age may matter in down syndrome screening, study suggests
Knowledge-focused CompletedThis completed study of over 7,000 pregnant women looked at whether the father's age influences the chance of Down syndrome (trisomy 21) in the baby. While it's well known that the mother's age matters, the father's role is less clear. Researchers used a blood test called the Opt…
Sponsor: Clinique Ovo • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:03 UTC