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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Can an immune-targeting antibody reverse sudden losses in down syndrome?
Disease control Not yet recruitingDown syndrome regression disorder (DSRD) causes a sudden loss of thinking, language, or daily skills in some people with Down syndrome. Researchers are testing ublituximab, an antibody that targets immune cells, in 20 adults aged 18 to 40 who have DSRD and did not respond well en…
Phase 2 • Sponsor: Jonathan Santoro • Aim: Disease control
Last updated Sep 12, 2026 00:00 UTC
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Playtime as brain training: a new approach targets thinking skills in down syndrome
Disease control Not yet recruitingThis trial tests a play-based program called EXPO, where caregivers guide children with Down syndrome through fun activities designed to strengthen executive function, the mental skills behind planning, focus, and self-control. Researchers will compare children who receive EXPO r…
Sponsor: Colorado State University • Aim: Disease control
Last updated Aug 30, 2026 00:00 UTC
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Can targeted exercises boost balance in children with down syndrome?
Disease control Not yet recruitingThis trial compares two exercise programs—vestibular stimulation and foot intrinsic muscle exercises—to see which better improves balance and functional mobility in children with Down syndrome aged 4 to 15. Children with Down syndrome often have balance and mobility challenges du…
Sponsor: Shalamar Institute of Health Sciences • Aim: Disease control
Last updated Aug 23, 2026 00:00 UTC
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Could a Vitamin-Like pill protect the brains of people with down syndrome?
Disease control Not yet recruitingThis early-stage trial tests a supplement called MIB-626 (a form of NMN) in 24 adults with Down syndrome. The goal is to see if it is safe and can raise NAD+ levels, which may help protect against Alzheimer's disease. Participants take the pill or a placebo for 28 days and are mo…
Phase 1 • Sponsor: Brigham and Women's Hospital • Aim: Disease control
Last updated Aug 21, 2026 00:00 UTC
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New Four-Drug cocktail aims to wipe out Hard-to-Treat myeloma
Disease control Not yet recruitingThis study tests a combination of four drugs—sotoclax, carfilzomib, lenalidomide, and dexamethasone (called SonKRd)—in people newly diagnosed with multiple myeloma that has a specific genetic change called t(11;14). Participants must be healthy enough for a stem cell transplant. …
Phase 4 • Sponsor: The First Affiliated Hospital of Soochow University • Aim: Disease control
Last updated Jul 19, 2026 00:00 UTC
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Could a drug clear Alzheimer's plaques in people with down syndrome?
Disease control Not yet recruitingThis study tests whether donanemab, given as an IV infusion every 4 weeks, can safely lower amyloid plaques in the brains of 60 adults aged 35–50 with Down syndrome. Participants receive either donanemab or a placebo for 12 months, followed by a 12-month extension where everyone …
Phase 4 • Sponsor: Michael Rafii, MD, PhD • Aim: Disease control
Last updated Jun 27, 2026 12:33 UTC
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Beyond the genome: new Multi-Omics approach aims to crack the code of intellectual disability
Diagnosis Not yet recruitingThis study tests whether combining several advanced genetic analysis techniques can find the cause of intellectual disability or neurodevelopmental disorders in people who have already had standard genetic testing with no answer. Participants will have their existing genetic data…
Sponsor: Centre Hospitalier Universitaire Dijon • Aim: Diagnosis
Last updated Aug 12, 2026 00:00 UTC
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Could a pacifier help babies with down syndrome breathe better at night?
Prevention Not yet recruitingThis study tests whether a special pacifier, called CURAPROX, can reduce the severity of obstructive sleep apnea (OSA) in infants with Down syndrome. Fifty infants will be enrolled at one month old, with half using the pacifier and half not. At six months, sleep tests will measur…
Sponsor: Hospices Civils de Lyon • Aim: Prevention
Last updated Jun 27, 2026 14:00 UTC
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Texts and calls could save lives: new study aims to boost baby vaccinations
Prevention Not yet recruitingThis study tests whether sending text messages or voice call reminders with helpful behavior change tips can improve how many babies get their full set of vaccines on time. About 7,800 caregivers of newborns in Bangladesh will be split into three groups: one gets no reminders, on…
Sponsor: Japan Institute for Health Secutiry • Aim: Prevention
Last updated Jun 27, 2026 12:07 UTC
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Could a higher dose of an Alzheimer's drug boost thinking skills in down syndrome?
Symptom relief Not yet recruitingThis early-stage trial will test whether higher-than-standard doses of memantine, a drug already approved for Alzheimer's, are safe and tolerable in 25 adolescents and young adults with Down syndrome. The study also looks for early signs that the drug might improve memory and thi…
Phase 1 • Sponsor: University Hospitals Cleveland Medical Center • Aim: Symptom relief
Last updated Sep 16, 2026 00:00 UTC
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Can visual cues unlock sentence building in children with language delays?
Symptom relief Not yet recruitingThis pilot study tests a new therapy called Syntactic-Semantic Visual Configuration Intervention (SSVCI) for Urdu-speaking children aged 6 to 12 who struggle to form phrases and sentences. The therapy uses visual cues and structured activities to help children understand and prod…
Sponsor: Riphah International University • Aim: Symptom relief
Last updated Aug 28, 2026 00:00 UTC
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Bouncing to better breathing: trampoline therapy tested for down syndrome kids
Symptom relief Not yet recruitingThis study tests whether adding mini-trampoline exercises (rebound therapy) to standard chest physical therapy can improve lung function in children with Down syndrome. Forty children aged 9 to 13 will be randomly assigned to either chest therapy alone or chest therapy plus rebou…
Sponsor: Beni-Suef University • Aim: Symptom relief
Last updated Jun 27, 2026 09:07 UTC
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Could a common nerve drug replace carpal tunnel surgery?
Symptom relief Not yet recruitingThis study tests whether 4-aminopyridine, a drug already approved for other nerve conditions, can improve symptoms of carpal tunnel syndrome or delay the need for surgery. Researchers will give 160 adults either the drug or a placebo for 6 weeks and track symptom changes using ha…
Phase 2 • Sponsor: John Elfar • Aim: Symptom relief
Last updated Jun 27, 2026 08:14 UTC
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Parenting a child with down syndrome? new study tests resilience training to ease burden
Symptom relief Not yet recruitingThis study tests whether a resilience training program can help parents of young children with Down syndrome feel more accepting and less burdened. About 50 parents will be randomly assigned to either the training or usual care. Researchers will measure changes in acceptance, rej…
Sponsor: Ain Shams University • Aim: Symptom relief
Last updated Jun 27, 2026 08:07 UTC
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Could a natural compound sharpen minds of kids with down syndrome?
Symptom relief Not yet recruitingThis study tests whether a natural compound called phenolic complex k110-42 can improve attention and thinking in children with Down syndrome. About 108 children aged 4 to 8 will take the compound and have their cognitive skills measured with standard tests. The goal is to ease s…
Phase 3 • Sponsor: Mansoura University • Aim: Symptom relief
Last updated Jun 27, 2026 08:03 UTC
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New hope for Prader-Willi: drug targets uncontrollable hunger
Symptom relief Not yet recruitingThis study tests an experimental drug called BMB-101 in 16 adults with Prader-Willi syndrome who struggle with severe, constant hunger. The trial is double-blind and placebo-controlled, meaning some participants get the drug and some get a dummy treatment, and neither they nor th…
Phase 2 • Sponsor: Bright Minds Biosciences Pty Ltd • Aim: Symptom relief
Last updated Jun 27, 2026 08:02 UTC
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New program aims to prevent depression in parents of down syndrome babies
Knowledge-focused Not yet recruitingThis study is testing a program called Mothers and Babies for Down Syndrome (MBDS) to help prevent depression in new and expectant parents of infants with Down syndrome. About 72 parents will take part in a small pilot study to see if the program helps with feelings of grief and …
Sponsor: Northwestern University • Aim: Knowledge-focused
Last updated Sep 17, 2026 00:00 UTC
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Could hidden blood problems be common in children with certain genetic syndromes?
Knowledge-focused Not yet recruitingThis study looks at blood health in children with numerical chromosomal disorders, such as Down syndrome, Turner syndrome, Klinefelter syndrome, Edwards syndrome, and Patau syndrome. Researchers will measure blood counts and check for issues like anemia, low platelets, or abnorma…
Sponsor: Assiut University • Aim: Knowledge-focused
Last updated Sep 12, 2026 00:00 UTC
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Can a special walker help babies with down syndrome take their first steps?
Knowledge-focused Not yet recruitingThis study looks at whether a suspension walker is a practical tool for pre-walking infants with Down syndrome to use at home. Twelve infants aged 10-13 months will try using the walker for 20 minutes a day, 5 days a week over three months. Researchers want to see if families can…
Sponsor: University of Southern California • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:02 UTC
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Wearable sensors could transform CMT1A monitoring
Knowledge-focused Not yet recruitingThis study will use wearable activity trackers to measure how much people with Charcot-Marie-Tooth disease type 1A (CMT1A) move at home. Researchers want to see if sensor data matches standard clinical tests. The goal is to improve patient follow-up and support future trials of n…
Sponsor: University Hospital, Limoges • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:36 UTC
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Tiny blood sample, big clues: stem cell study aims to unlock williams syndrome brain mystery
Knowledge-focused Not yet recruitingThis study will collect blood from 3 children with Williams syndrome and 3 healthy children. Scientists will turn blood cells into stem cells and then into brain cells to study how the brain develops differently in Williams syndrome. The goal is to understand the disease better, …
Sponsor: Qilu Hospital of Shandong University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:09 UTC
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Brain study aims to crack social skill mysteries in rare disorders
Knowledge-focused Not yet recruitingThis study looks at how the brains of children with Williams syndrome and autism differ, focusing on social and thinking skills. Researchers will compare 75 children aged 3-12 from three groups: those with Williams syndrome, those with autism, and typically developing kids. No tr…
Sponsor: Qilu Hospital of Shandong University • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:04 UTC
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Scientists investigate hidden genetic patterns in rare childhood disorders
Knowledge-focused Not yet recruitingThis study aims to better understand a condition called multilocus imprinting disorder (MLID), where multiple genes are affected by abnormal chemical marks. Researchers will test a new technique to detect these marks in 96 people, including those with known imprinting disorders a…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:01 UTC
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Discarded embryos hold clues to better IVF success
Knowledge-focused Not yet recruitingThis observational study looks at embryos from IVF that are not used for pregnancy to find molecular patterns related to embryo quality. Researchers hope to learn why some embryos are healthy and others are not, which could improve future fertility treatments. About 150 patients …
Sponsor: Igenomix • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:08 UTC
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New study aims to unravel fatigue in common nerve disease
Knowledge-focused Not yet recruitingThis pilot study looks at fatigue in people with Charcot-Marie-Tooth type 1A (CMT1A), a nerve disorder affecting arms and legs. Researchers will compare 22 patients with 22 healthy volunteers to measure how fatigue affects walking and balance. They use tests like muscle strength …
Sponsor: University Hospital, Strasbourg, France • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:06 UTC
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Heart defects and hidden genes: new study to reveal genetic links
Knowledge-focused Not yet recruitingThis study will examine 138 children with congenital heart disease to find out how many also have chromosomal abnormalities. Researchers will use a standard genetic test called karyotyping to look for missing or extra chromosomes. The goal is to improve diagnosis, treatment plann…
Sponsor: Assiut University • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:52 UTC
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New study to uncover hidden genetic carriers of down syndrome in families
Knowledge-focused Not yet recruitingThis study will look at 230 children with Down syndrome and their parents to find out how many have a rare form called translocation Down syndrome. Researchers will use blood tests to check if parents carry a balanced translocation that can be passed down. The goal is to better u…
Sponsor: Assiut University • Aim: Knowledge-focused
Last updated Jun 26, 2026 18:22 UTC