ArticleAmerican journal of human genetics1996
Evidence for structural heterogeneity from molecular cytogenetic analysis of dicentric Robertsonian translocations.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 73 citations in OpenAlex.
- Biobank-scale genotyping of Robertsonian translocations reveals hidden structural variation on the human acrocentric chromosomes.bioRxiv : the preprint server for biology · 2026Article
- The complete sequence of a human genome.Science (New York, N.Y.) · 2022Article
- Evolutionary breakpoint regions and chromosomal remodeling in Harttia (Siluriformes: Loricariidae) species diversification.Genetics and molecular biology · 2022Article
- Expanding studies of chromosome structure and function in the era of T2T genomics.Human molecular genetics · 2021Review
- Sequence, Chromatin and Evolution of Satellite DNA.International journal of molecular sciences · 2021Review
- Only the Rye Derived Part of the 1BL/1RS Hybrid Centromere Incorporates CENH3 of Wheat.Frontiers in plant science · 2021Article
- Presence of 15p Marker D15Z1 on the Short Arm of Acrocentric Chromosomes is Associated with Aneuploid Offspring in Mexican Couples.International journal of molecular sciences · 2019Article
- Are ribosomal DNA clusters rearrangement hotspots?: a case study in the genus Mus (Rodentia, Muridae).BMC evolutionary biology · 2011Article
- Isolated skeletal malformations in a child with a small mosaic ring microduplication of 18 p11.21q11.2: genotype-phenotype correlations.American journal of medical genetics. Part A · 2011Article
- Telomere disruption results in non-random formation of de novo dicentric chromosomes involving acrocentric human chromosomes.PLoS genetics · 2010Article
- Molecular cytogenetic mapping of Cucumis sativus and C. melo using highly repetitive DNA sequences.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2010Article
- Inverted duplications on acentric markers: mechanism of formation.Human molecular genetics · 2009Article
- Gene dosage change of TPTE and BAGE2 and breakpoint analysis in Robertsonian Down syndrome.Journal of human genetics · 2008Article
- Genomic architecture and inheritance of human ribosomal RNA gene clusters.Genome research · 2008Article
- Parental origin and timing of de novo Robertsonian translocation formation.American journal of human genetics · 2002Review
- Satellite III sequences on 14p and their relevance to Robertsonian translocation formation.Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology · 2001Article
- The mosaic structure of human pericentromeric DNA: a strategy for characterizing complex regions of the human genome.Genome research · 2000Article
- Identification of uniparental disomy following prenatal detection of Robertsonian translocations and isochromosomes.American journal of human genetics · 2000Article
- Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome.American journal of human genetics · 1999Article
- Chromosome breakage in the Prader-Willi and Angelman syndromes involves recombination between large, transcribed repeats at proximal and distal breakpoints.American journal of human genetics · 1999Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Most Robertsonian translocations are dicentric, suggesting that the location of chromosomal breaks leading to their formation occur in the acrocentric short arm. Previous cytogenetic and molecular cytogenetic studies have shown that few Robertsonian translocations retain ribosomal genes or beta-satellite DNA. Breakpoints in satellite III DNA, specifically between two chromosome 14-specific subfamilies, pTRS-47 and pTRS-63, have been indicated for most of the dicentric 14q21q and 13q14q translocations that have been studied. We have analyzed the structure of 36 dicentric translocations, using several repetitive DNA probes that localize to the acrocentric short arm. The majority of the translocations retained satellite III DNA, while others proved variable in structure. Of 10 14q21q translocations analyzed, satellite III DNA was undetected in 1; 6 retained one satellite III DNA subfamily, pTRS-47; and 3 appeared to contain two 14-specific satellite III DNA sub-families, pTRS-47 and pTRS-63. In 10/11 translocations involving chromosome 15, the presence of satellite III DNA was observed. Our results show that various regions of the acrocentric short arm, and, particularly, satellite III DNA sequences, are involved in the formation of Robertsonian translocations.
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Identifiers
8659523PMC1915107W1570437652What OpenQuestion holds
Registered trials
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