Autosomal anomaly
MONDO:0020049Chromosomal disorder in which the chromosomal anomaly involves an autosome.
Also known as: autosome chromosomal anomaly, chromosomal anomaly of autosome
195 clinical trials for this condition and its sub-types, 0 tagged with Autosomal anomaly itself.
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Sub-types of Autosomal anomaly
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Chromosome 21 disorder 0 trials · 138 incl. sub-types
6 sub-types
- Down syndrome 136 trials · 138 incl. sub-types Sub-types →
- Maternal uniparental disomy of chromosome 21 0 trials
- Monosomy 21 0 trials
- Paternal uniparental disomy of chromosome 21 0 trials
- Ring chromosome 21 0 trials
- Tetrasomy 21 0 trials
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Chromosome 17 disorder 0 trials · 29 incl. sub-types
4 sub-types
- Partial duplication of chromosome 17 0 trials · 19 incl. sub-types Sub-types →
- Partial deletion of chromosome 17 0 trials · 12 incl. sub-types Sub-types →
- Mosaic trisomy 17 0 trials
- Ring chromosome 17 0 trials
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Chromosome 7 disorder 0 trials · 19 incl. sub-types
6 sub-types
- Partial deletion of chromosome 7 0 trials · 18 incl. sub-types Sub-types →
- Partial duplication of chromosome 7 0 trials · 3 incl. sub-types Sub-types →
- Mosaic trisomy 7 0 trials
- Paternal uniparental disomy of chromosome 7 0 trials
- Ring chromosome 7 0 trials
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 0 trials
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Chromosome 5 disorder 0 trials · 8 incl. sub-types
5 sub-types
- Partial deletion of chromosome 5 0 trials · 5 incl. sub-types Sub-types →
- Partial trisomy/tetrasomy of chromosome 5 0 trials · 3 incl. sub-types Sub-types →
- Mosaic trisomy 5 0 trials
- Paternal uniparental disomy of chromosome 5 0 trials
- Ring chromosome 5 0 trials
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Chromosome 18 disorder 1 trial · 4 incl. sub-types
6 sub-types
- Trisomy 18 3 trials Sub-types →
- Chromosome 18 mosaic monosomy 0 trials
- Chromosome 18 pericentric inversion 0 trials
- Partial deletion of chromosome 18 0 trials Sub-types →
- Partial trisomy/tetrasomy of chromosome 18 0 trials Sub-types →
- Ring chromosome 18 0 trials
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Chromosome 13 disorder 0 trials · 4 incl. sub-types
6 sub-types
- Trisomy 13 4 trials Sub-types →
- Chromosome 13q-mosaicism 0 trials
- Maternal uniparental disomy of chromosome 13 0 trials
- Partial duplication of chromosome 13 0 trials Sub-types →
- Paternal uniparental disomy of chromosome 13 0 trials
- Ring chromosome 13 0 trials
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Chromosome 10 disorder 0 trials · 2 incl. sub-types
4 sub-types
- Partial deletion of chromosome 10 0 trials · 1 incl. sub-types Sub-types →
- Partial duplication of chromosome 10 0 trials · 1 incl. sub-types Sub-types →
- Mosaic trisomy 10 0 trials
- Ring chromosome 10 0 trials
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Chromosome 2 disorder 0 trials · 2 incl. sub-types
5 sub-types
- Partial deletion of chromosome 2 0 trials · 2 incl. sub-types Sub-types →
- Maternal uniparental disomy of chromosome 2 0 trials
- Mosaic trisomy 2 0 trials
- Partial duplication of chromosome 2 0 trials Sub-types →
- Ring chromosome 2 0 trials
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Chromosome 8 disorder 0 trials · 2 incl. sub-types
6 sub-types
- Chromosome 8, trisomy 0 trials · 1 incl. sub-types Sub-types →
- Partial deletion of chromosome 8 0 trials · 1 incl. sub-types Sub-types →
- 8p inverted duplication/deletion syndrome 0 trials
- Chromosome 8-derived supernumerary ring/marker 0 trials
- Monosomy chromosome 8 0 trials
- Partial duplication of chromosome 8 0 trials Sub-types →
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Chromosome 1 disorder 0 trials · 1 incl. sub-types
7 sub-types
- Partial deletion of chromosome 1 0 trials · 1 incl. sub-types Sub-types →
- Partial duplication of chromosome 1 0 trials · 1 incl. sub-types Sub-types →
- Chromosome 1, uniparental disomy 1q12 q21 0 trials
- Maternal uniparental disomy of chromosome 1 0 trials
- Mosaic trisomy 1 0 trials
- Paternal uniparental disomy of chromosome 1 0 trials
- Ring chromosome 1 0 trials
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Chromosome 11 disorder 0 trials · 1 incl. sub-types
5 sub-types
- Partial deletion of chromosome 11 0 trials · 1 incl. sub-types Sub-types →
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 0 trials
- Partial duplication of chromosome 11 0 trials Sub-types →
- Ring chromosome 11 0 trials
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 0 trials
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Chromosome 14 disorder 0 trials · 1 incl. sub-types
4 sub-types
- Paternal uniparental disomy of chromosome 14 1 trial
- Maternal uniparental disomy of chromosome 14 0 trials
- Mosaic trisomy 14 0 trials
- Ring chromosome 14 0 trials
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Chromosome 16 disorder 0 trials · 1 incl. sub-types
6 sub-types
- Partial deletion of chromosome 16 0 trials · 1 incl. sub-types Sub-types →
- Chromosome 16 inversion, 0.45-Mb 0 trials
- Chromosome 16 trisomy 0 trials Sub-types →
- Maternal uniparental disomy of chromosome 16 0 trials
- Partial duplication of chromosome 16 0 trials Sub-types →
- Ring chromosome 16 0 trials
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Chromosome 3 disorder 0 trials · 1 incl. sub-types
5 sub-types
- Partial deletion of chromosome 3 0 trials · 1 incl. sub-types Sub-types →
- Partial duplication of chromosome 3 0 trials · 1 incl. sub-types Sub-types →
- Chromosome 3 duplication syndrome 0 trials
- Mosaic trisomy 3 0 trials
- Ring chromosome 3 0 trials
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Chromosome 12 disorder 0 trials
4 sub-types
- Mosaic trisomy 12 0 trials
- Partial deletion of chromosome 12 0 trials Sub-types →
- Partial duplication of chromosome 12 0 trials Sub-types →
- Ring chromosome 12 0 trials
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Chromosome 15 disorder 0 trials
4 sub-types
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Chromosome 19 disorder 0 trials
3 sub-types
- Partial deletion of chromosome 19 0 trials Sub-types →
- Partial duplication of chromosome 19 0 trials Sub-types →
- Ring chromosome 19 0 trials
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Chromosome 20 disorder 0 trials
6 sub-types
- Chromosome 20 trisomy 0 trials Sub-types →
- Maternal uniparental disomy of chromosome 20 0 trials
- Partial deletion of chromosome 20 0 trials Sub-types →
- Partial trisomy of chromosome 20 0 trials Sub-types →
- Paternal uniparental disomy of chromosome 20 0 trials
- Ring chromosome 20 0 trials
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Chromosome 22 disorder 0 trials
4 sub-types
- Maternal uniparental disomy of chromosome 22 0 trials
- Monosomy 22 0 trials Sub-types →
- Ring chromosome 22 0 trials
- Trisomy 22 0 trials Sub-types →
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Chromosome 4 disorder 0 trials
5 sub-types
- Maternal uniparental disomy of chromosome 4 0 trials
- Mosaic trisomy 4 0 trials
- Partial deletion of chromosome 4 0 trials Sub-types →
- Partial duplication of chromosome 4 0 trials Sub-types →
- Ring chromosome 4 0 trials
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Chromosome 6 disorder 0 trials
6 sub-types
- Maternal uniparental disomy of chromosome 6 0 trials
- Mosaic trisomy 6 0 trials
- Partial deletion of chromosome 6 0 trials Sub-types →
- Partial duplication of chromosome 6 0 trials Sub-types →
- Paternal uniparental disomy of chromosome 6 0 trials
- Ring chromosome 6 0 trials
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Chromosome 9 disorder 0 trials
5 sub-types
- Maternal uniparental disomy of chromosome 9 0 trials
- Mosaic trisomy 9 0 trials
- Partial deletion of chromosome 9 0 trials Sub-types →
- Partial trisomy/tetrasomy of chromosome 9 0 trials Sub-types →
- Ring chromosome 9 0 trials
Most studied deeper sub-types
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Early safety trial of ION269 for Alzheimer's in down syndrome ends after just one participant
Disease control Stopped earlyThis early-stage study tested a drug called ION269 in adults with Down syndrome who also showed signs of Alzheimer's disease. The goal was to check if the drug was safe and tolerable when injected into the spinal fluid. Only one person took part, and the study was stopped early, …
Phase 1 • Sponsor: Ionis Pharmaceuticals, Inc. • Aim: Disease control
Last updated Jun 27, 2026 09:07 UTC
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Down syndrome hyperactivity drug trial stalls after just 3 kids enrolled
Symptom relief Stopped earlyThis study tested the drug guanfacine to see if it could reduce hyperactivity and impulsivity in children aged 6 to 12 with Down syndrome. The plan was to give the drug or a placebo for 8 weeks and measure behavior changes. However, the trial was stopped early after only 3 childr…
Phase 2 • Sponsor: Rachel G. Greenberg, MD, MB, MHS • Aim: Symptom relief
Last updated Jun 27, 2026 12:09 UTC
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Brain and eye clues to emotion recognition in autism and psychosis
Knowledge-focused Stopped earlyThis study aimed to understand why people with autism or schizophrenia sometimes struggle to recognize emotions on faces. Researchers used brain wave recordings (EEG) and eye-tracking to see how participants processed facial expressions. The study included people with autism, sch…
Sponsor: Hôpital le Vinatier • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:07 UTC