noun
definition
The normal state of a diploid eukaryotic cell or individual which has two members of a pair of homologous chromosomes in each nucleus. A normal chromosome is represented twice in a single cell.
Examples of disomy in a Sentence
When a person receives both chromosomes from the same parent it is called "uniparental disomy."
When a person receives both chromosomes from his or her mother, it is called "maternal uniparental disomy."
Maternal uniparental disomy for chromosome 15 leads to PWS because the genes on chromosome 15 that should have been inherited from the father are missing, and the genes on both the chromosome 15s inherited from the mother are imprinted.
If a child has PWS due to maternal uniparental disomy, the chance the parents could have another child with PWS is less than 1 percent.
Although methylation testing can accurately diagnose PWS, it cannot determine if the PWS is caused by a deletion, maternal uniparental disomy, or a mutation that disrupts imprinting.
More specialized DNA testing is required to detect maternal uniparental disomy or a mutation that disrupts imprinting.