Human ring chromosomes (RCs) are rare diseases with an estimated newborn incidence of
1/50,000 and an annual occurrence of 2,800 patients globally. Over the past 60 years …

Genomic imprinting is a specific mode of gene regulation which particularly accounts for the
factors involved in development. Its disturbance affects the fetus, the course of pregnancy …

Uniparental disomy (UPD) is the inheritance of both chromosomal homologs from one
parent. Depending on the chromosome involved and the parental origin, UPD may result in …

Background: The majority of small supernumerary marker chromosomes (sSMCs) are
derived from one single chromosome. Complex sSMCs instead consist of two to three …

Aneuploidy is one of the main causes of miscarriage and in vitro fertilization failure. Mitotic
abnormalities in preimplantation embryos are the main cause of mosaicism, which may be …

Background Uniparental disomy (UPD) refers to an epigenomic abnormality in which both
copies of, or a part of, a homologous pair of chromosomes are inherited from one parent …

Background Few co-occurrence cases of mosaic aneuploidy and uniparental disomy (UPD)
chromosomes have been reported in prenatal periods. It is a big challenge for us to predict …

Abstract Background• Uniparental disomy (UPD) is a well-known epigenomic anomaly
characterized by the inheritance of both copies of a homologous pair of chromosomes (or …

Objective We present prenatal diagnosis of mosaic trisomy 18 and maternal uniparental
disomy (UPD) 18 in a pregnancy with a favorable fetal outcome. Case report A 34-year-old …

Human ring chromosomes (RCs) are a rare type of chromosomal structural abnormality.
Current cytogenomic analysis revealed heterogeneous genomic rearrangements in the ring …