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Explore conditions, clinical trials, and the organisations running them.
Up to: Disease of genetic or genomic mechanism
Chromosomal disorder
Clinical 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)
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Autosomal anomaly 0 trials · 195 incl. sub-types Sub-types →
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Syndrome caused by partial chromosomal deletion 0 trials · 57 incl. sub-types Sub-types →
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Aneuploidy 14 trials · 36 incl. sub-types Sub-types →
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Prader-Willi syndrome 32 trials Sub-types →
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Syndrome caused by partial chromosomal duplication 0 trials · 32 incl. sub-types Sub-types →
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Gonosome anomaly 6 trials · 20 incl. sub-types Sub-types →
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Silver-Russell syndrome 7 trials Sub-types →
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Polyploidy 0 trials · 1 incl. sub-types Sub-types →
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Uniparental disomy 0 trials · 1 incl. sub-types Sub-types →
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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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Ring chromosome disorder 0 trials Sub-types →