Chromosomal disorder

MONDO:0019040

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)

Also known as: chromosomal disease, chromosomal disorder, chromosomal disorders, chromosome disorder, disorder, chromosomal, disorder, chromosome, disorders, chromosomal, disorders, chromosome

277 clinical trials for this condition and its sub-types, 13 tagged with Chromosomal disorder itself.

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Where it sits in the disease tree

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Part of

↑ Disease of genetic or genomic mechanism (18355)

Sub-types of Chromosomal disorder

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 →
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
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 →
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 →
Prader-Willi syndrome 31 trials
5 sub-types
- Prader-Willi syndrome due to imprinting mutation 0 trials
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 0 trials
- Prader-Willi syndrome due to paternal 15q11q13 deletion 0 trials Sub-types →
- Prader-Willi syndrome due to translocation 0 trials
- Schaaf-Yang syndrome 0 trials
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 →
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
Chromosome inversion disorder 1 trial
2 sub-types
- Chromosome 16 inversion, 0.45-Mb 0 trials
- Chromosome 18 pericentric inversion 0 trials
Polyploidy 0 trials · 1 incl. sub-types
3 sub-types
- Triploidy 1 trial
- Diploid-triploid mosaicism 0 trials
- Tetraploidy syndrome 0 trials
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
Bloom syndrome 0 trials
FRAXD syndrome 0 trials
Chromosome 16q12 duplication syndrome 0 trials
Chromosome 1p36 deletion syndrome, proximal 0 trials
Chromosome Xq13 duplication syndrome 0 trials
Duplication/inversion 15q11 0 trials
Mosaic variegated aneuploidy syndrome 0 trials
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
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

Down syndrome (136) Williams syndrome (18) Charcot-Marie-Tooth disease type 1A (16) DiGeorge syndrome (11) Klinefelter syndrome (9) Trisomy 21 (9) 22q11.2 deletion syndrome (7) Chromosome 17p deletion (6) Spermatogenic failure, Y-linked, 2 (5) Hereditary neuropathy with liability to pressure palsies (4) Trisomy 13 (4) Velocardiofacial syndrome (4) 15q11q13 microduplication syndrome (3) 7q11.23 microduplication syndrome (3) Adult-onset autosomal dominant demyelinating leukodystrophy (3) Syndromic X-linked intellectual disability Lubs type (3) Trisomy 18 (3) Trisomy X (3) 47,XYY syndrome (2) Cri-du-chat syndrome (2)

Including sub-types (277) Tagged with Chromosomal disorder (13)

Trials to join now! 5 Not yet recruiting 3 Not yet finished but already full! 1 Completed 3 Terminated 1

Chromosomal disorder

Where it sits in the disease tree

Most studied deeper sub-types

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