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
278 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 · 195 incl. sub-types
22 sub-types
- Chromosome 21 disorder 0 trials · 138 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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Prader-Willi syndrome 32 trials
5 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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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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Weekly shot could replace daily growth hormone for kids
Disease control Recruiting nowThis phase 3 trial compares a once-weekly growth hormone injection (lonapegsomatropin) to a daily one (somatropin) in 186 prepubertal children with growth failure due to Turner syndrome, SHOX deficiency, being small for gestational age, or idiopathic short stature. The goal is to…
Phase 3 • Sponsor: Ascendis Pharma A/S • Aim: Disease control
Last updated Sep 04, 2026 00:00 UTC
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New stem cell transplant aims to cut dangerous side effects in blood cancer patients
Disease control Recruiting nowThis study tests a special stem cell transplant for children and adults with blood cancers like leukemia. The transplant uses stem cells that have had certain immune cells removed to lower the risk of graft-versus-host disease, a serious complication. About 70 participants will r…
Phase 2 • Sponsor: Masonic Cancer Center, University of Minnesota • Aim: Disease control
Last updated Jun 27, 2026 12:04 UTC
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Blood bank aims to predict leukemia risk in MDS patients
Knowledge-focused Recruiting nowThis study gathers blood and bone marrow samples from 150 adults with myelodysplastic syndrome (MDS), a blood disorder that can turn into acute leukemia. Researchers want to find biological markers that help predict which patients are likely to progress to leukemia. The goal is t…
Sponsor: University Hospital, Brest • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:03 UTC
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Massive down syndrome study aims to unlock health secrets
Knowledge-focused Recruiting nowThis long-term study will follow up to 1,400 people with Down syndrome of all ages to better understand their health, development, and daily experiences. Participants and their caregivers will answer questions, share medical records, and may provide blood or saliva samples. Some …
Sponsor: RTI International • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:03 UTC
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Massive study aims to unlock secrets of rare chromosome 18 disorders
Knowledge-focused Recruiting nowThis study is gathering medical and educational information from up to 4,000 people with chromosome 18 abnormalities and their families. The goal is to better understand these rare conditions and provide better resources and care. Participants must be at least one year old and in…
Sponsor: The University of Texas Health Science Center at San Antonio • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:08 UTC