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Chromosome 8, mosaic trisomy MeSH Supplementary Concept Data 2024


MeSH Supplementary
Chromosome 8, mosaic trisomy
Unique ID
C537940
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C537940
Entry Term(s)
Trisomy 8 Mosaicism
Uniparental disomy of 8
Registry Number
0
Heading Mapped to
Chromosomes, Human, Pair 8
Mosaicism
*Trisomy
*Uniparental Disomy
Frequency
26
Note
A chromosomal disorder characterized by the presence of a third copy of chromosome 8 in some cell populations. Affected individuals may have craniofacial abnormalities, mild intellectual disability, joint, urinary, cardiac, and skeletal defects. They are also at higher risk for developing WILMS TUMOR and MYELODYSPLASTIC SYNDROMES.
Date of Entry
2010/08/25
Revision Date
2016/09/29
Chromosome 8, mosaic trisomy Preferred
Uniparental disomy of 8 Related
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