Chromosomal disorder
MONDO:0019040Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
Also known as: chromosomal disease, chromosomal disorder, chromosomal disorders, chromosome disorder, disorder, chromosomal, disorder, chromosome, disorders, chromosomal, disorders, chromosome
276 clinical trials for this condition and its sub-types, 13 tagged with Chromosomal disorder itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Chromosomal disorder
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Autosomal anomaly 0 trials · 194 incl. sub-types
22 sub-types
- Chromosome 21 disorder 0 trials · 137 incl. sub-types Sub-types →
- Chromosome 17 disorder 0 trials · 29 incl. sub-types Sub-types →
- Chromosome 7 disorder 0 trials · 19 incl. sub-types Sub-types →
- Chromosome 5 disorder 0 trials · 8 incl. sub-types Sub-types →
- Chromosome 13 disorder 0 trials · 4 incl. sub-types Sub-types →
- Chromosome 18 disorder 1 trial · 4 incl. sub-types Sub-types →
- Chromosome 10 disorder 0 trials · 2 incl. sub-types Sub-types →
- Chromosome 2 disorder 0 trials · 2 incl. sub-types Sub-types →
- Chromosome 8 disorder 0 trials · 2 incl. sub-types Sub-types →
- Chromosome 1 disorder 0 trials · 1 incl. sub-types Sub-types →
- Chromosome 11 disorder 0 trials · 1 incl. sub-types Sub-types →
- Chromosome 14 disorder 0 trials · 1 incl. sub-types Sub-types →
- Chromosome 16 disorder 0 trials · 1 incl. sub-types Sub-types →
- Chromosome 3 disorder 0 trials · 1 incl. sub-types Sub-types →
- Chromosome 12 disorder 0 trials Sub-types →
- Chromosome 15 disorder 0 trials Sub-types →
- Chromosome 19 disorder 0 trials Sub-types →
- Chromosome 20 disorder 0 trials Sub-types →
- Chromosome 22 disorder 0 trials Sub-types →
- Chromosome 4 disorder 0 trials Sub-types →
- Chromosome 6 disorder 0 trials Sub-types →
- Chromosome 9 disorder 0 trials Sub-types →
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Syndrome caused by partial chromosomal deletion 0 trials · 57 incl. sub-types
27 sub-types
- Partial deletion of chromosome 7 0 trials · 18 incl. sub-types Sub-types →
- Chromosome 22q deletion 0 trials · 13 incl. sub-types Sub-types →
- Partial deletion of chromosome 17 0 trials · 12 incl. sub-types Sub-types →
- Smith-Magenis syndrome 5 trials
- Partial chromosome Y deletion 0 trials · 5 incl. sub-types Sub-types →
- Partial deletion of chromosome 5 0 trials · 5 incl. sub-types Sub-types →
- Partial deletion of the long arm of chromosome 15 1 trial · 3 incl. sub-types Sub-types →
- Partial deletion of chromosome 2 0 trials · 2 incl. sub-types Sub-types →
- Partial deletion of chromosome 1 0 trials · 1 incl. sub-types Sub-types →
- Partial deletion of chromosome 10 0 trials · 1 incl. sub-types Sub-types →
- Partial deletion of chromosome 11 0 trials · 1 incl. sub-types Sub-types →
- Partial deletion of chromosome 16 0 trials · 1 incl. sub-types Sub-types →
- Partial deletion of chromosome 3 0 trials · 1 incl. sub-types Sub-types →
- Partial deletion of chromosome 8 0 trials · 1 incl. sub-types Sub-types →
- 3q27.3 microdeletion syndrome 0 trials
- Partial deletion of chromosome 12 0 trials Sub-types →
- Partial deletion of chromosome 18 0 trials Sub-types →
- Partial deletion of chromosome 19 0 trials Sub-types →
- Partial deletion of chromosome 20 0 trials Sub-types →
- Partial deletion of chromosome 4 0 trials Sub-types →
- Partial deletion of chromosome 6 0 trials Sub-types →
- Partial deletion of chromosome 9 0 trials Sub-types →
- Partial deletion of chromosome X 0 trials Sub-types →
- Partial deletion of the long arm of chromosome 13 0 trials Sub-types →
- Partial deletion of the long arm of chromosome 14 0 trials Sub-types →
- Partial deletion of the long arm of chromosome 21 0 trials Sub-types →
- Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome 0 trials
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Aneuploidy 14 trials · 36 incl. sub-types
5 sub-types
- Trisomy 1 trial · 24 incl. sub-types Sub-types →
- 49,XXXYY syndrome 0 trials
- Monosomy 0 trials Sub-types →
- Pentasomy 0 trials Sub-types →
- Tetrasomy 0 trials Sub-types →
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Syndrome caused by partial chromosomal duplication 0 trials · 32 incl. sub-types
23 sub-types
- Partial duplication of chromosome 17 0 trials · 19 incl. sub-types Sub-types →
- Partial duplication of chromosome 7 0 trials · 3 incl. sub-types Sub-types →
- Partial duplication of chromosome X 0 trials · 3 incl. sub-types Sub-types →
- Partial duplication of the long arm of chromosome 15 2 trials · 3 incl. sub-types Sub-types →
- Partial trisomy/tetrasomy of chromosome 5 0 trials · 3 incl. sub-types Sub-types →
- Partial duplication of chromosome 1 0 trials · 1 incl. sub-types Sub-types →
- Partial duplication of chromosome 10 0 trials · 1 incl. sub-types Sub-types →
- Partial duplication of chromosome 3 0 trials · 1 incl. sub-types Sub-types →
- Partial segmental duplication 1 trial
- Partial duplication of chromosome 11 0 trials Sub-types →
- Partial duplication of chromosome 12 0 trials Sub-types →
- Partial duplication of chromosome 13 0 trials Sub-types →
- Partial duplication of chromosome 16 0 trials Sub-types →
- Partial duplication of chromosome 19 0 trials Sub-types →
- Partial duplication of chromosome 2 0 trials Sub-types →
- Partial duplication of chromosome 4 0 trials Sub-types →
- Partial duplication of chromosome 6 0 trials Sub-types →
- Partial duplication of chromosome 8 0 trials Sub-types →
- Partial duplication of the long arm of chromosome 14 0 trials Sub-types →
- Partial duplication of the long arm of chromosome 22 0 trials Sub-types →
- Partial trisomy of chromosome 20 0 trials Sub-types →
- Partial trisomy/tetrasomy of chromosome 18 0 trials Sub-types →
- Partial trisomy/tetrasomy of chromosome 9 0 trials Sub-types →
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Prader-Willi syndrome 31 trials
5 sub-types
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Gonosome anomaly 6 trials · 20 incl. sub-types
2 sub-types
- Chromosome X disorder 0 trials · 12 incl. sub-types Sub-types →
- Chromosome Y disorder 0 trials · 7 incl. sub-types Sub-types →
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Silver-Russell syndrome 7 trials
11 sub-types
- Russell-silver syndrome, X-linked 0 trials
- Silver-Russell syndrome 1 0 trials
- Silver-Russell syndrome 3 0 trials
- Silver-Russell syndrome 5 0 trials
- Silver-Russell syndrome due to 11p15 microduplication 0 trials
- Silver-Russell syndrome due to 7p11.2p13 microduplication 0 trials
- Silver-Russell syndrome due to an imprinting defect of 11p15 0 trials
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 0 trials
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 0 trials
- Silver-russell syndrome 2 0 trials
- Silver-russell syndrome 4 0 trials
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Chromosome inversion disorder 1 trial
2 sub-types
- Chromosome 16 inversion, 0.45-Mb 0 trials
- Chromosome 18 pericentric inversion 0 trials
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Polyploidy 0 trials · 1 incl. sub-types
3 sub-types
- Triploidy 1 trial
- Diploid-triploid mosaicism 0 trials
- Tetraploidy syndrome 0 trials
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Uniparental disomy 0 trials · 1 incl. sub-types
27 sub-types
- Paternal uniparental disomy of chromosome 14 1 trial
- Angelman syndrome due to paternal uniparental disomy of chromosome 15 0 trials
- Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 0 trials
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 0 trials
- Maternal uniparental disomy of chromosome 1 0 trials
- Maternal uniparental disomy of chromosome 13 0 trials
- Maternal uniparental disomy of chromosome 14 0 trials
- Maternal uniparental disomy of chromosome 16 0 trials
- Maternal uniparental disomy of chromosome 2 0 trials
- Maternal uniparental disomy of chromosome 20 0 trials
- Maternal uniparental disomy of chromosome 21 0 trials
- Maternal uniparental disomy of chromosome 22 0 trials
- Maternal uniparental disomy of chromosome 4 0 trials
- Maternal uniparental disomy of chromosome 6 0 trials
- Maternal uniparental disomy of chromosome 9 0 trials
- Maternal uniparental disomy of chromosome X 0 trials
- Mosaic genome-wide paternal uniparental disomy 0 trials
- Paternal uniparental disomy of chromosome 1 0 trials
- Paternal uniparental disomy of chromosome 13 0 trials
- Paternal uniparental disomy of chromosome 20 0 trials
- Paternal uniparental disomy of chromosome 21 0 trials
- Paternal uniparental disomy of chromosome 5 0 trials
- Paternal uniparental disomy of chromosome 6 0 trials
- Paternal uniparental disomy of chromosome 7 0 trials
- Paternal uniparental disomy of chromosome X 0 trials
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 0 trials
- Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 0 trials
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Bloom syndrome 0 trials
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FRAXD syndrome 0 trials
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Chromosome Xq13 duplication syndrome 0 trials
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Duplication/inversion 15q11 0 trials
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7 sub-types
- Atelis syndrome 1 0 trials
- Atelis syndrome 2 0 trials
- Mosaic variegated aneuploidy syndrome 1 0 trials
- Mosaic variegated aneuploidy syndrome 2 0 trials
- Mosaic variegated aneuploidy syndrome 3 0 trials
- Mosaic variegated aneuploidy syndrome 4 0 trials
- Mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition 0 trials
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Ring chromosome disorder 0 trials
24 sub-types
- X small rings 0 trials
- Chromosome 8-derived supernumerary ring/marker 0 trials
- Ring chromosome 1 0 trials
- Ring chromosome 10 0 trials
- Ring chromosome 11 0 trials
- Ring chromosome 12 0 trials
- Ring chromosome 13 0 trials
- Ring chromosome 14 0 trials
- Ring chromosome 15 0 trials
- Ring chromosome 16 0 trials
- Ring chromosome 17 0 trials
- Ring chromosome 18 0 trials
- Ring chromosome 19 0 trials
- Ring chromosome 2 0 trials
- Ring chromosome 20 0 trials
- Ring chromosome 21 0 trials
- Ring chromosome 22 0 trials
- Ring chromosome 3 0 trials
- Ring chromosome 4 0 trials
- Ring chromosome 5 0 trials
- Ring chromosome 6 0 trials
- Ring chromosome 7 0 trials
- Ring chromosome 9 0 trials
- Ring chromosome Y 0 trials
Most studied deeper sub-types
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New drug shows promise for Tough-to-Treat seizures in kids
Disease control Stopped earlyThis study looked at the long-term safety of soticlestat, an experimental drug, in children and adults with severe forms of epilepsy like Dravet syndrome and Lennox-Gastaut syndrome. Participants took soticlestat twice a day along with their usual seizure medicines. The study was…
Phase 2 • Sponsor: Takeda • Aim: Disease control
Last updated Sep 06, 2026 00:00 UTC
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Promising Dup15q drug trial halted early
Disease control Stopped earlyThis study tested a drug called basmisanil in children aged 2 to 14 with Dup15q syndrome, a rare genetic condition that affects development. The goal was to see if the drug could improve daily living skills like communication and movement. The trial was stopped early after enroll…
Phase 2 • Sponsor: Hoffmann-La Roche • Aim: Disease control
Last updated Aug 20, 2026 00:00 UTC
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New nasal spray aims to curb relentless hunger in rare genetic disorder
Disease control Stopped earlyThis study tests the long-term safety of a nasal spray called carbetocin for people with Prader-Willi syndrome who experience severe, constant hunger (hyperphagia). About 160 participants who completed a previous study will receive the spray three times daily. The goal is to see …
Phase 3 • Sponsor: ACADIA Pharmaceuticals Inc. • Aim: Disease control
Last updated Aug 19, 2026 00:00 UTC
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New hope for rare hunger disorder: drug shows promise in Long-Term trial
Disease control Stopped earlyThis study tests whether ARD-101 can safely reduce extreme hunger and food-related behaviors in people with Prader-Willi syndrome over 12 months. About 90 participants who completed a prior study will take the drug daily and visit the clinic regularly. The goal is to improve qual…
Phase 3 • Sponsor: Aardvark Therapeutics, Inc. • Aim: Disease control
Last updated Jul 02, 2026 00:00 UTC
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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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New embryo test could boost IVF success without poking the embryo
Diagnosis Stopped earlyThis study tested a new, non-invasive way to check embryos for chromosome problems before IVF. Instead of taking a cell from the embryo, doctors analyzed the fluid the embryo grew in. The goal was to see if this method could help choose the embryo most likely to lead to a healthy…
Sponsor: Igenomix • Aim: Diagnosis
Last updated Jun 27, 2026 07:52 UTC
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Hope for rare hunger disorder: new drug enters final testing phase
Symptom relief Stopped earlyThis phase 3 trial tests whether ARD-101 can reduce the intense, constant hunger (hyperphagia) seen in Prader-Willi syndrome. About 90 participants will take either ARD-101 or a placebo daily for 12 weeks. Caregivers will track changes in hunger-related behaviors using a standard…
Phase 3 • Sponsor: Aardvark Therapeutics, Inc. • Aim: Symptom relief
Last updated Jul 02, 2026 00:00 UTC
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CBDV study for Prader-Willi syndrome halted early
Symptom relief Stopped earlyThis study tested whether a cannabis-derived compound called CBDV could safely reduce irritability in children and young adults with Prader-Willi syndrome. Only 6 people enrolled before the study was stopped early. The goal was to see if CBDV helped with mood and behavior problem…
Phase 2 • Sponsor: Eric Hollander • Aim: Symptom relief
Last updated Jun 27, 2026 12:30 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
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Scientists hunt for clues in rare genetic brain disorder
Knowledge-focused Stopped earlyThis study aimed to observe how MECP2 duplication syndrome progresses over time by measuring biological markers in spinal fluid and blood, and by tracking changes in development, behavior, and seizures. It enrolled 29 males aged 1 month to 65 years with a confirmed genetic diagno…
Sponsor: Ionis Pharmaceuticals, Inc. • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:05 UTC