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Related to disomy: trisomy, Prader Willi syndrome


1. The state of an individual or cell having two members of a pair of homologous chromosomes; the normal state in humans, in contrast to monosomy and trisomy.
2. An abnormal chromosome represented twice in a single cell.
[G. dis, two, + sōma, body]
References in periodicals archive ?
The Poisson model was fitted using each disomy measure (XX18, YY18, XY18, or total sex-chromosome disomy) as the outcome variable, the natural logarithm of the number of sperm counted as the offset variable, and the organochlorine exposure of interest as the independent variable, with age, abstinence time, smoking status, log(sperm concentration), motility, and morphology as potential confounders in the adjusted analyses.
Nonhomologous Robertsonian translocations (NHRTs) and uniparental disomy (UPD) risk: an Italian multicentric prenatal survey.
Abbreviations: LTR: long terminal repeat; Peg: paternally expressed gene; Meg: maternally expressed gene; ICR: imprinting control center; DMR: differentially methylated region; upd14pat: uniparental disomy of paternal chromosome 14; XCI: X chromosome inactivation; CTCF: CCCTC-binding factor; PGC: primordial germ cell; miRNA: micro RNA; SINE: short interspersed nuclear element; LINE: long interspersed nuclear element; Ma: million years ago; SIRH: sushi-ichi related retrotransposon homologue; PNMA: paraneoplastic Ma antigen; XLID: X-linked intellectual disability; mC: methyl cytosine; hmC: hydroxylmethyl cytosine; HERV: human endogenous retrovirus; P-Tr: Permian-Triassic; Tr-J: Triassic-Jurassic; K-Pg: Kreide-Paleogene.
In the population of persons with PWS resulting from maternal uniparental disomy, reduced skin picking was seen but there was an increase in affective, psychotic, and autistic symptoms (Boer et al.
Regarding FISH data (Table III), in group I the mean frequency per centage of sex chromosome disomy and diploidy was significantly reduced after stress therapy treatment.
Some 30 percent of cases occur when both chromosome 15s are inherited from the individual's mother, a condition called uniparental disomy or UPD.
Because of an error during sperm formation, each child inherited two chromosome 15 segments from the father and none from the mother, a rare condition called uniparental paternal disomy.
SNP chips are considered superior for detecting uniparental disomy and copy neutral loss of heterozygosity.
Similarly, those with uniparental disomy 15 (maternal disomy in PWS or paternal disomy in AS) may present with additional clinical findings such as psychosis in PWS.
Robertsonian translocations: mechanisms of formation, aneuploidy, and uniparental disomy and diagnostic considerations.