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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)

Identifiers
MONDO:0019040 Orphanet:68335
Part of
Disease of genetic or genomic mechanism
Also known as
autosomal chromosome disorder · autosomal chromosome disorders · chromosomal disease · chromosomal disorders · chromosome abnormality disorder

Subtypes

All diseases Rare only
Disease Subtypes
Autosomal anomaly 347
Syndrome caused by partial chromosomal deletion 195
Syndrome caused by partial chromosomal duplication 123
Aneuploidy 46
Gonosome anomaly 39
Uniparental disomy 27
Ring chromosome disorder 24
Silver-Russell syndrome 11
Prader-Willi syndrome 7
Mosaic variegated aneuploidy syndrome 7
Polyploidy 3
Chromosome inversion disorder 2
Bloom syndrome
Chromosome 16q12 duplication syndrome
Chromosome 1p36 deletion syndrome, proximal
Chromosome Xq13 duplication syndrome
Duplication/inversion 15q11

Projects

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