Ring Chromosomes (Ring Chromosome)

01/01/2023 - " efficacy of recombinant human growth hormone treatment remains a challenge for children with IGF1 resistance and pathogenic mutations of IGF1R, with limited data in patients carrying the most severe form of IGF1R defect, the ring chromosome 15. "

07/17/1995 - "In situ hybridization studies, gene dosage, and DNA polymorphism analysis showed that the ring chromosome carries a duplicated region which extends from D21S406 on the centromeric side and includes marker D21S3 on the telomeric side. "
09/01/1994 - "Studies of the ring chromosome that has XIST DNA but does not transcribe it show that its AR allele is transcribed along with the one on the normal X allele.(ABSTRACT TRUNCATED AT 250 WORDS)"
03/01/2018 - "Many authors describe common symptoms of RC presence: short stature and some developmental delay that could be described as a "ring chromosome syndrome." As a rule, RCs arise de novo through the end-joining of two DNA double-strand breaks, telomere-subtelomere junction, or inv dup del rearrangement in both meiosis and mitosis. "
11/01/2014 - "Observation of dose-dependant increase in the MN frequency with multi-chromosome material may be due to misrepair of DNA double-strand breaks involving multiple chromosomes leading to asymmetric dicentric or ring chromosomes and acentric fragments. "
12/01/2011 - "The second neocentromere was found on a neocentric ring chromosome that contained the 8q21 tandemly repeated DNA, although the neocentromere was localized to a different genomic region. "

12/09/2020 - "In case 2, the marker chromosome derived from ring chromosome X, and the karyotype was interpreted as 45,X[68]/46,X,+r(X)(p11.1q21.31)[32]. "
01/01/2018 - "Array CGH detected a 1 Mb deletion of 15q26.3 in a ring chromosome 15 and a 2.6 Mb copy number gain of 15q11.2 corresponding to a small supernumerary marker chromosome involving proximal 15q. "
01/01/2018 - "Small supernumerary marker chromosome 15 and a ring chromosome 15 associated with a 15q26.3 deletion excluding the IGF1R gene."
09/01/2012 - "To present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from ring chromosome 2 [r(2)]. "
09/01/2012 - "Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 2."

01/01/1984 - "[Value of silver staining technics for the study of acrocentric ring chromosomes and supernumerary microchromosomes]."
09/07/2012 - "Silver staining revealed the presence of the nucleolar organizer region in the ring chromosome. "
01/01/2003 - "A 5-year-old boy with Silver-Russell-like phenotype and developmental delay was found to have a ring chromosome 15. "
01/01/1981 - "Chromosome heteromorphisms and analysis of silver stained nucleolus organizer regions (Ag-NOR) substantiated the parental origin of the ring chromosomes. "
01/01/1980 - "Prophase banding analysis showed minimal deletion of the ring chromosome (breakpoints p12 and q26), while silver staining showed it to have an active nucleolus organizing region, multiple abnormal secondary configurations, and decreased satellite association. "

01/01/2018 - "We provide the first example of chromoanasynthesis in a constitutional ring chromosome and reinforce the growing evidence that chromosomal rearrangements may be more complex than estimated by conventional diagnostic approaches and affect the phenotype by global alteration of the topological chromatin organisation rather than simply by deletion or duplication of dosage-sensitive genes."
05/01/2016 - "Thus, the phenotypic alterations found in the presence of complete ring chromosomes may be related to changes in the chromatin architecture, bringing about a change of expression by position effect. "
03/01/1993 - "Sub-band analysis of the telomeric fusion shows thin chromatin filaments between the telomeres of some of the very elongated ring chromosomes, which cannot be resolved by metaphase chromosome analysis. "
11/01/1991 - "In the majority of cases, the formation of chromosomelike structures was preceded by the appearance of other, smaller size, structures: the so-called "small chromatin bodies" (minichromosomes) and/or homogeneously G-positive small ring chromosomes."
04/01/2016 - "Among various chromosomal aberrations, chromatin bridges, breaks, stickiness, laggard, vagrant chromosomes, fragments, C-mitosis, multipolarity, ring chromosome as well as micronuclei were observed in mitotic preparations. "

11/01/1994 - "Biological dose-equivalent estimates were determined, either by measuring the frequency of dicentric and ring chromosomes in first division unstable cells from conventional preparations (Qdr method), or by measuring the frequency of stable translocations using two-colour fluorescence in situ hybridisation (FISH) with composite whole chromosome-specific DNA libraries for human chromosomes 1, 4 and 12 (chromosome painting) and a degenerate alpha-satellite pancentromeric DNA probe. "
10/01/1991 - "Southern blot hybridizations with Y-specific DNA probes excluded a Y chromosomal origin of the small ring chromosome. "
02/01/1986 - "A study with polymorphic DNA probes located in the Xq27-qter region has enabled us to demonstrate that the ring chromosome is of paternal origin and that the factor VIII gene region is deleted. "
07/01/1995 - "Fluorescence in situ hybridization (FISH), carried out with an alphoid DNA probe specific for chromosome 7 centromere, showed that a small marker chromosome present in the tumor cells' karyotype of the three patients, was derived from the missing chromosome 7. In two cases, the marker was a ring chromosome, whereas in the third case it was a tiny dot-like chromosome, unnoticed at first examination on R-banded metaphases. "
09/01/1991 - "To identify the sequences involved in the expression of the fragile X and to characterize the molecular basis of the genetic lesion, we have constructed yeast artificial chromosomes (YACs) containing human DNA and have screened them with cloned DNA probes which map close to the fragile site at Xq27.3. We have isolated and partly characterized a YAC containing approximately 270 kb of human DNA from an X chromosome which expresses the fragile X. This sequence in a yeast artificial ring chromosome, XTY26, hybridizes to the two closest DNA markers, VK16 and Do33, which flank the fragile site. "

06/01/1995 - "Good growth response to growth hormone treatment in the ring chromosome 15 syndrome."
03/01/2017 - "No studies about the effects and possible side effects of growth hormone therapy on patients with ring chromosomes have yet been published. "
01/01/2023 - "Response to growth hormone therapy in ring chromosome 15: Review and evidence from a new case on possible beneficial effect in neurodevelopment."
03/01/2017 - "We suggest that cytogenetic monitoring of the rate of secondary aberrations in patients with ring chromosome undergoing growth hormone therapy might be feasible. "
03/01/2005 - "Mosaic monosomy of a neocentric ring chromosome maps brachyphalangy and growth hormone deficiency to 13q31.1-13q32.3."

01/01/2012 - "High-resolution oligonucleotide array comparative genomic hybridization with single-nucleotide polymorphism typing (aCGH+SNP) was used to study 2 unrelated cases with a ring chromosome 21. "
01/01/1997 - "An oligonucleotide, (CCCTAA) representing human telomeric sequences, was mixed with nucleotides, biotin-16-dUTP, and Taq DNA polymerase, and applied on metaphase slides with ring chromosomes 4, 13, 18, X and Y. "

06/01/2010 - "Chromosome banding analysis revealed a supernumerary ring chromosome, and further studies with fluorescence in situ hybridization and reverse transcriptase-polymerase chain reaction (RT-PCR) showed that the ring contained material from chromosomes 7 and 16, that the FUS gene was present in two rearranged copies, and that it expressed the FUS/CREB3L2 fusion gene. "

12/01/1989 - "Use of a ring chromosome and pulsed-field gels to study interhomolog recombination, double-strand DNA breaks and sister-chromatid exchange in yeast."
12/01/1989 - "Meiotic recombination between this ring chromosome and a linear homolog produces new molecules of sizes distinguishable on gels from either parental molecule. "

01/01/2023 - "Twelve patients with ring chromosome 15 received GH therapy according to a literature review. "
01/01/2022 - "Cytogenetic and microarray analysis of the post-therapy sample revealed an abnormal chromosome 21 lacking a satellite and having a deletion of the terminal 22q22.3 region, consistent with a constitutional ring chromosome 21, r(21)(p11.2q22). "
01/01/2018 - "Importantly, the in vivo presence of monosomic cells indicates ring chromosome instability, which may favor karyotype correction that is significant for the development of chromosomal therapy protocols."
06/01/1988 - "The frequency of dicentric chromosomes:acentric fragments:centric ring chromosomes is 37:14:1 throughout the therapy. "
01/01/2018 - "Further research to define underlying mechanisms of ring chromosome formation and dynamic mosaicism, to delineate the genotype-phenotype correlations, and to develop chromosome therapy for ring chromosomes were discussed."

06/16/2015 - "From the findings of the study it can be concluded that deep brain stimulation of the centromedian nucleus is ineffective in patients with ring chromosome, but note must be taken of the importance of genetic characterisation for the management of refractory epilepsy. "

03/17/2021 - "In our study the blood of the same healthy donor was irradiated with linear accelerator using both conventional flattening filter (FF) and FFF photon beams at dose rate of 3.57-23.08 Gy/min, using 6 or 10 MV. The dose-response calibration curves for dicentric + ring chromosomes induced by irradiation were fitted with linear-quadratic model. "

11/01/2010 - "The ring chromosome was studied by fluorescence in-situ hybridization (FISH), multiplex-ligation probe amplification (MLPA), and genome wide SNP array, and no deletions of chromosome 14 were detected, although the telomeric repeat sequence was absent from the ring chromosome. "
03/01/2008 - "A fusion at the short arms of chromosome 12 and a D-group chromosome was accompanied by excision and ligation of the chromosome 12 pericentromeric region to form a small ring chromosome."
01/01/2007 - "The extent of genetic material deleted from the ring chromosome was determined using a combination of classical cytogenetics, fluorescence in situ hybridization (FISH) and multiplex ligation-dependent probe amplification (MLPA) to be 0.6-2.5 Mb on 17p, and up to about 10 Mb on 17q. "
08/01/2012 - "These have not been previously reported with ring chromosome 6. He recovered from heart failure symptoms after ligation of the PDA. "
11/01/2008 - "We describe the video-assisted surgical rehabilitation of the left parotid duct in a child with ring chromosome 21 syndrome and a persistent and painful swelling of the left parotid region after the surgical ligation of the Stensen ducts because of drooling. "

07/01/1990 - "Dicentric chromosomes were twice more frequent during the entire radiotherapy than acentric fragments and about 30 times more frequent than centric ring chromosomes."
12/01/1987 - "Peripheral blood lymphocytes of patients undergoing radiation therapy for pelvic tumours have been examined for the presence of dicentric and centric ring chromosomes. "
09/01/1981 - "The yield of chromosome aberrations (dicentric chromosomes, ring chromosomes) induced in lymphocytes of four radiotherapy patients was determined. "