ArticleAmerican journal of human genetics2000
Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes.
Article in American journal of human genetics, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
14 citing papers in PubMed.
- Efficient and precise inversion of genomic DNA from large to chromosomal scale.Nature chemical biology · 2026Article
- Detection of Mosaic Absence of Heterozygosity (AOH) Using Low-Pass Whole Genome Sequencing in Prenatal Diagnosis: A Preliminary Report.Diagnostics (Basel, Switzerland) · 2023Article
- Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- A Male Case of Kagami-Ogata Syndrome Caused by Paternal Unipaternal Disomy 14 as a Result of a Robertsonian Translocation.Frontiers in pediatrics · 2020Article
- The Survey of Double Robertsonian Translocation 13q; 14q in the Pedigree of 44; XX Woman: A Case Report.International journal of molecular and cellular medicine · 2017Article
- Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region.Journal of human genetics · 2016Review
- Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami-Ogata syndrome).European journal of human genetics : EJHG · 2015Article
- Robertsonian translocations: an overview of 872 Robertsonian translocations identified in a diagnostic laboratory in China.PloS one · 2015Article
- Uniparental disomy in Robertsonian translocations: strategies for uniparental disomy testing.Translational pediatrics · 2014Review
- Inheritance of a t(13;14)(q10;q10) Robertsonian translocation with a low level of trisomy 13 mosaicism.European journal of pediatrics · 2010Article
- Skeletal defects in paternal uniparental disomy for chromosome 14 are re-capitulated in the mouse model (paternal uniparental disomy 12).Human genetics · 2003Article
- Uniparental disomy and Robertsonian translocations: risk estimation and prenatal testing.Molecular diagnosis : a journal devoted to the understanding of human disease through the clinical application of molecular biology · 2003Article
- Complex and segmental uniparental disomy (UPD): review and lessons from rare chromosomal complements.Journal of medical genetics · 2001Review
- American College of Medical Genetics statement of diagnostic testing for uniparental disomy.Genetics in medicine : official journal of the American College of Medical GeneticsArticle
Corrections and comments
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Authors and funding
4 authors.
Funding
Abstract
Rearrangements of the acrocentric chromosomes (Robertsonian translocations and isochromosomes) are associated with an increased risk of aneuploidy. Given this, and the large number of reported cases of uniparental disomy (UPD) associated with an acrocentric rearrangement, carriers are presumed to be at risk for UPD. However, an accurate risk estimate for UPD associated with these rearrangements is lacking. A total of 174 prenatally identified acrocentric rearrangements, including both Robertsonian translocations and isochromosomes, were studied prospectively to identify UPD for the chromosomes involved in the rearrangements. The overall goal of the study was to provide an estimate of the risk of UPD associated with nonhomologous Robertsonian translocations and homologous acrocentric rearrangements. Of the 168 nonhomologous Robertsonian translocations studied, one showed UPD for chromosome 13, providing a risk estimate of 0.6%. Four of the six homologous acrocentric rearrangements showed UPD, providing a risk estimate of 66%. These cases have also allowed delineation of the mechanisms involved in producing UPD unique to Robertsonian translocations. Given the relatively high risk for UPD in prenatally identified Robertsonian translocations and isochromosomes, UPD testing should be considered, especially for cases involving the acrocentric chromosomes 14 and 15, in which UPD is associated with adverse clinical outcomes.
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