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
Structural rearrangements and uniparental disomy
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
They also identify long contiguous stretches of homozygosity, which may suggest an increased likelihood for a recessive condition or uniparental 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.