mosaic trisomy Chromosome 8
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.
Also Known As:
Chromosome 8, mosaic trisomy; Trisomy 8 Mosaicism; Uniparental disomy of 8
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