Syndrome caused by partial chromosomal duplication
MONDO:0000762A chromosomal disorder consisting of the presence of a part of a chromosome in more copies than in a regular genome.
Also known as: microduplication sydrome, chromosomal duplication syndrome
32 clinical trials for this condition and its sub-types, 0 tagged with Syndrome caused by partial chromosomal duplication itself.
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Sub-types of Syndrome caused by partial chromosomal duplication
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Partial duplication of chromosome 17 0 trials · 19 incl. sub-types
2 sub-types
- Partial duplication of the short arm of chromosome 17 0 trials · 18 incl. sub-types Sub-types →
- Partial duplication of the long arm of chromosome 17 0 trials · 1 incl. sub-types Sub-types →
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Partial duplication of the long arm of chromosome 15 2 trials · 3 incl. sub-types
2 sub-types
- 15q11q13 microduplication syndrome 3 trials
- 15q overgrowth syndrome 0 trials Sub-types →
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Partial duplication of chromosome 7 0 trials · 3 incl. sub-types
2 sub-types
- Partial duplication of the long arm of chromosome 7 0 trials · 3 incl. sub-types Sub-types →
- Partial duplication of the short arm of chromosome 7 0 trials Sub-types →
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Partial duplication of chromosome X 0 trials · 3 incl. sub-types
2 sub-types
- Partial duplication of the long arm of chromosome X 0 trials · 3 incl. sub-types Sub-types →
- Partial duplication of the short arm of chromosome X 0 trials Sub-types →
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Partial trisomy/tetrasomy of chromosome 5 0 trials · 3 incl. sub-types
2 sub-types
- Partial trisomy of the long arm of chromosome 5 0 trials · 3 incl. sub-types Sub-types →
- Partial trisomy/tetrasomy of the short arm of chromosome 5 0 trials Sub-types →
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Partial segmental duplication 1 trial
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Partial duplication of chromosome 1 0 trials · 1 incl. sub-types
2 sub-types
- Partial duplication of the long arm of chromosome 1 0 trials · 1 incl. sub-types Sub-types →
- Partial duplication of the short arm of chromosome 1 0 trials Sub-types →
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Partial duplication of chromosome 10 0 trials · 1 incl. sub-types
2 sub-types
- Partial duplication of the long arm of chromosome 10 0 trials · 1 incl. sub-types Sub-types →
- Partial duplication of the short arm of chromosome 10 0 trials Sub-types →
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Partial duplication of chromosome 3 0 trials · 1 incl. sub-types
2 sub-types
- Partial duplication of the long arm of chromosome 3 0 trials · 1 incl. sub-types Sub-types →
- Partial duplication of the short arm of chromosome 3 0 trials Sub-types →
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Partial duplication of chromosome 11 0 trials
2 sub-types
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Partial duplication of chromosome 12 0 trials
2 sub-types
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Partial duplication of chromosome 13 0 trials
2 sub-types
- Chromosome 13p duplication 0 trials
- Chromosome 13q trisomy 0 trials Sub-types →
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Partial duplication of chromosome 16 0 trials
2 sub-types
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Partial duplication of chromosome 19 0 trials
2 sub-types
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Partial duplication of chromosome 2 0 trials
2 sub-types
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Partial duplication of chromosome 4 0 trials
2 sub-types
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Partial duplication of chromosome 6 0 trials
2 sub-types
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Partial duplication of chromosome 8 0 trials
2 sub-types
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3 sub-types
- 14q11.2 microduplication syndrome 0 trials
- 14q32 duplication syndrome 0 trials
- Distal trisomy 14q 0 trials
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3 sub-types
- Chromosome 22q11.2 microduplication syndrome 0 trials Sub-types →
- Chromosome 22q13 duplication syndrome 0 trials
- Distal trisomy 22q 0 trials
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Partial trisomy of chromosome 20 0 trials
2 sub-types
- Partial trisomy of the long arm of chromosome 20 0 trials Sub-types →
- Trisomy 20p 0 trials
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2 sub-types
Most studied deeper sub-types
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Gene therapy injection tested for rare nerve disease
Disease control CompletedThis early-phase trial tested the safety of a gene therapy called Engensis (VM202) in 12 adults with Charcot-Marie-Tooth disease type 1A (CMT1A), a genetic nerve disorder that causes muscle weakness. Participants received multiple injections into their leg muscles and were monito…
Phase 1/2 • Sponsor: Helixmith Co., Ltd. • Aim: Disease control
Last updated Jun 27, 2026 07:54 UTC
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Can a daily tablet quiet the seizures of two devastating genetic disorders?
Symptom relief CompletedResearchers are testing an experimental drug called soticlestat in people with two rare genetic conditions: Dup15q syndrome and CDKL5 deficiency disorder. Both conditions cause frequent motor seizures that are hard to control. The trial enrolls about 20 participants who take one …
Phase 2 • Sponsor: Takeda • Aim: Symptom relief
Last updated Sep 12, 2026 00:00 UTC
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Ultrasound probes nerve stiffness in rare nerve diseases
Knowledge-focused CompletedResearchers at Nantes University Hospital are studying whether nerves feel stiffer in people with three rare peripheral neuropathies: CIDP, CMT1a, and anti-MAG neuropathy. They use ultrasound shear wave elastography to measure nerve stiffness in 36 participants aged 18 to 65 and …
Sponsor: Nantes University Hospital • Aim: Knowledge-focused
Last updated Sep 16, 2026 00:00 UTC
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Scientists hunt for clues in blood and skin to speed up CMT treatments
Knowledge-focused CompletedThis study involved 156 people with Charcot-Marie-Tooth disease type 1A (CMT1A), a rare nerve condition that slowly gets worse. Researchers took blood and skin samples over two years to find biological markers that could show how the disease progresses. The goal was to develop mo…
Sponsor: University Medical Center Goettingen • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:29 UTC
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Walking study reveals balance differences in nerve diseases
Knowledge-focused CompletedThis study looked at how two types of nerve diseases—inherited and acquired—affect walking and balance. Researchers used motion analysis and simple tests like the Timed Up and Go test in 67 participants. The goal was to find clear differences that could help doctors tell the two …
Sponsor: University Hospital, Lille • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:03 UTC
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Could a single DNA test solve the mystery of rare brain diseases in kids?
Knowledge-focused CompletedThis study looked at whether whole genome sequencing (a complete read of a person's DNA) can help diagnose leukodystrophies, a group of rare brain diseases that are hard to identify. Researchers enrolled 236 children with white matter abnormalities on brain scans but no known gen…
Sponsor: Children's Hospital of Philadelphia • Aim: Knowledge-focused
Last updated Jun 27, 2026 07:56 UTC