ArticleMolecular cytogenetics2010
Cytogenetic contribution to uniparental disomy (UPD).
Article in Molecular cytogenetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 papers.
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Who cites it
71 citing papers in PubMed.
- Article
- Review
- Maternal mixed UPD3 and a homozygous PLXNA1 c.2497G>C variant in a fetus with severe anomalies.Frontiers in medicine · 2025Article
- Uniparental disomy (UPD) exclusion in embryos following Preimplantation Genetic Testing for Structural Rearrangements (PGT-SR).Journal of assisted reproduction and genetics · 2025Article
- Automatized detection of uniparental disomies in a large cohort.Human genetics · 2024Article
- Case reports on uniparental disomy of chromosomes 6 and 3 in paternity testing.Forensic sciences research · 2024Article
- Prenatal ultrasound findings and clinical outcomes of uniparental disomy: a retrospective study.BMC pregnancy and childbirth · 2024Article
- A cohort study of neurodevelopmental disorders and/or congenital anomalies using high resolution chromosomal microarrays in southern Brazil highlighting the significance of ASD.Scientific reports · 2024Article
- Maternal uniparental disomy for chromosome 6 in 2 prenatal cases with IUGR: case report and literature review.Molecular cytogenetics · 2024Article
- Be careful with small supernumerary marker chromosomes!Frontiers in genetics · 2023Article
- Case report: Paternal uniparental disomy on chromosome 7 and homozygousFrontiers in genetics · 2023Article
- Article
- Prenatal diagnosis and genetic counseling of a uniparental isodisomy of chromosome 8 with no phenotypic abnormalities.Molecular cytogenetics · 2022Article
- Uniparental disomy is a chromosomic disorder in the first place.Molecular cytogenetics · 2022Article
- Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy:Genes · 2022Article
- Clinical experience of noninvasive prenatal testing for rare chromosome abnormalities in singleton pregnancies.Frontiers in genetics · 2022Article
- Identification of the first congenital ichthyosis case caused by a homozygous deletion in theFrontiers in genetics · 2022Article
- Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients.Molecular genetics & genomic medicine · 2021Article
- Reproductive outcomes in individuals with chromosomal reciprocal translocations.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Clinical significance and mechanisms associated with segmental UPD.Molecular cytogenetics · 2021Article
11 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Uniparental disomy (UPD) is often considered as an event to be characterized exclusively by molecular genetic or epigenetic approaches. This review shows that at least one third of UPD cases emerge in connection with or due to a chromosomal rearrangement. Thus, additional (molecular) cytogenetic characterization of UPD cases is essential. Up to now > 1,100 UPD cases detected in clinical, non-tumor cases are reported in the literature. Recently, these cases were summarized in a regularly updated, freely available online database http://www.med.uni-jena.de/fish/sSMC/00START-UPD.htm. Based of this, here the presently known imprinting syndromes, the chromosomal contribution to UPD phenomenon, and the cytogenetic subgroups of UPD, including cases with normal, abnormal balanced or unbalanced karyotype (like e.g. small supernumerary marker chromosomes and Robertsonian translocations) and segmental UPD are reviewed. Furthermore, chromosome fragmentation as a possible mechanism of trisomic rescue is discussed, which might help to explain the observed 1:9 rate of maternal versus paternal UPD present in cases with original trisomic karyotypes. Overall, as UPD is more but an interesting rarity, the genetic background of each "UPD-patient" needs to be characterized besides by molecular methods, also by molecular cytogenetics in detail.
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