Rare diseases · Sign or symptom
Abnormality of chromosome segregation
HP:0002916
What it means
An abnormality of chromosome segregation.
Rare diseases that can present with this22
Very common80–99%
20- 17p11.2microduplication syndrome
- 8p inverted duplication/deletion syndrome
- Distal duplication 14q syndrome
- Distal duplication 6p syndrome
- Distal limb deficiencies-micrognathia syndrome
- Maternal uniparental disomy of chromosome X syndrome
- Mosaic trisomy 14 syndrome
- Non-distal duplication 10q syndrome
- Non-distal duplication 13q syndrome
- Paternal uniparental disomy of chromosome X syndrome
- Proximal Xq28 duplication syndrome
- Tetraploidy syndrome
- Triploidy syndrome
- Trisomy 12p syndrome
- Trisomy 20p syndrome
- Trisomy 4p syndrome
- Trisomy 5p syndrome
- Trisomy 8q syndrome
- Trisomy X syndrome
- Xp22.3microdeletion syndrome
The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions, and Orphanet separately records 1 disease where this sign is specifically absent. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.