The analysis of a karyotype of a girl with slight mental retardation, without significant dysmorphism, showed the presence of a ring chromosome in group 13-15. By the application of G technique it was discovered that in this case it was an aberrant chromosome 15. Besides retardation in growth and a slight mental backwardness in this case, it was confirmed that in cases of ring 15 syndrome no preponderant change appears in phenotype.
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http://dx.doi.org/10.1007/BF00281895 | DOI Listing |
Curr Opin Cell Biol
January 2025
Department of Chromosome Science, National Institute of Genetics, Mishima, 411-8540, Japan; Department of Genetics, Graduate University for Advanced Studies (SOKENDAI), Mishima, 411-8540, Japan. Electronic address:
Faithful chromosome segregation in eukaryotes relies on physical cohesion between newly duplicated sister chromatids. Cohesin is a ring-shaped ATPase assembly that mediates sister chromatid cohesion through its ability to topologically entrap DNA. Cohesin, assisted by several regulatory proteins, binds to DNA prior to DNA replication and then holds two sister DNAs together when it encounters the replication machinery.
View Article and Find Full Text PDFMol Plant Microbe Interact
January 2025
Max Planck Institute for Biology Tübingen, Max-Planck Ring 5, Tuebingen, Germany, 72076;
Filamentous plant pathogens pose a severe threat to food security. Current estimates suggest up to 23% yield losses to pre- and post-harvest diseases and these losses are projected to increase due to climate change (Singh et al. 2023; Chaloner et al.
View Article and Find Full Text PDFAm J Med Genet C Semin Med Genet
January 2025
Medical Genetics, Department of Pediatrics, Mass General for Children, Boston, Massachusetts, USA.
Determining karyotype-phenotype correlations for individuals with Turner syndrome ("TS individuals") is a longstanding research endeavor. The limited literature on Turner syndrome (TS) with a ring X chromosome hinders counseling about the neuropsychological and clinical features. To further characterize these phenotypes, we compared 27 TS individuals with 46,X,r(X)/45,X ("ring X") to 50 non-mosaic 45,X, and 27 mosaic 45,X/46,XX ("mosaic 45,X") individuals.
View Article and Find Full Text PDFInt J Mol Sci
January 2025
Centro de Investigación Biomédica en Red de Cáncer, CIBERONC CB16/12/00284, Instituto de Salud Carlos III, 28029 Madrid, Spain.
Recent studies have demonstrated the association between constitutional ring chromosome 21 (r(21)c) and the development of B-cell acute lymphoblastic leukemia (B-ALL) with intrachromosomal amplification of chromosome 21 (iAMP21). iAMP21 acts as a driver which is often accompanied by secondary alterations that influence disease progression. Here, we report an atypical case of iAMP21 B-ALL with a unique molecular profile in the context of r(21)c.
View Article and Find Full Text PDFDev Cell
January 2025
Department of Algal Development and Evolution, Max Planck Institute for Biology Tübingen, Max-Planck-Ring 5, 72076 Tübingen, Germany. Electronic address:
In many multicellular organisms, sexual development is not determined by XX/XY or ZW/ZZ systems but by U/V sex chromosomes. In U/V systems, sex determination occurs in the haploid phase, with U chromosomes in females and V chromosomes in males. Here, we explore several male, female, and partially sex-reversed male lines of giant kelp to decipher how U/V sex chromosomes and autosomes initiate male versus female development.
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