|1.||Ring Chromosomes (Ring Chromosome)
|3.||Chromosome Aberrations (Chromosome Abnormalities)
|1.||Pedeutour, Florence: 6 articles (05/2011 - 04/2002)|
|2.||Wang, Wayseen: 3 articles (09/2012 - 06/2011)|
|3.||Chen, Chih-Ping: 3 articles (09/2012 - 06/2011)|
|4.||Chern, Schu-Rern: 3 articles (09/2012 - 06/2011)|
|5.||Oliveira, Andre M: 3 articles (03/2008 - 04/2005)|
|6.||Maire, Georges: 3 articles (07/2004 - 04/2002)|
|7.||Valent, P: 3 articles (09/2001 - 04/2000)|
|8.||Lechner, K: 3 articles (09/2001 - 04/2000)|
|9.||Streubel, B: 3 articles (09/2001 - 04/2000)|
|10.||Fonatsch, C: 3 articles (09/2001 - 04/2000)|
|1.||Genetic Markers (Genetic Marker)IBA
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."
06/01/2011 - "To present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome (sSMC) derived from ring chromosome, or r(4) by spectral karyotyping (SKY), fluorescence in situ hybridization (FISH), and array comparative genomic hybridization (aCGH). "
06/01/2011 - "Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from ring chromosome 4."
01/01/2007 - "By fluorescent in situ hybridization (FISH) technique, dual X/Y alpha-satellite probes were used to detect the origin of ring shaped marker chromosome and 17% of his cells had two X chromosome signals due to marker X; hybridization with X chromosome inactivation center (XIST) specific probe revealed the absence of the locus on the ring chromosome. "
02/01/2007 - "Recent cytogenetic studies have shown that reciprocal translocation t (17;22)(q22;q13) and a supernumerary ring chromosome derived from the translocation r(17;22) are highly characteristic of dermatofibrosarcoma protuberans (DFSP). "
09/01/2001 - "Supernumerary ring chromosomes in dermatofibrosarcoma protuberans may contain sequences from 8q11.2-qter and 17q21-qter: a combined cytogenetic and comparative genomic hybridization study."
03/01/2008 - "This same fusion gene is also seen in the supernumerary ring chromosome of dermatofibrosarcoma protuberans (DFSP). "
11/01/2006 - "Dermatofibrosarcoma protuberans is genetically characterized by the unbalanced chromosomal t(17;22)(q21;q13), usually in the form of a supernumerary ring chromosome. "
09/01/2001 - "Dermatofibrosarcoma protuberans (DFSP) presents with characteristic cytogenetic features such as reciprocal t(17;22)(q22;q13) or, more commonly, supernumerary ring chromosomes containing sequences from chromosomes 17 and 22. "
|3.||DNA (Deoxyribonucleic Acid)IBA
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)"
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. "
01/01/2010 - "To characterize the ring chromosome in more detail peripheral blood derived DNA was analyzed using SNP-arrays. "
01/01/1984 - "[Value of silver staining technics for the study of acrocentric ring chromosomes and supernumerary microchromosomes]."
01/01/2012 - "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. "
06/01/1985 - "Phenotypic delineation of ring chromosome 15 and Russell-Silver syndromes."
01/01/1981 - "Chromosome heteromorphisms and analysis of silver stained nucleolus organizer regions (Ag-NOR) substantiated the parental origin of the ring chromosomes. "
|5.||trisomy Chromosome 8IBA
03/17/2002 - "Routine chromosomal analysis and fluorescent in situ hybridization studies revealed a normal cell line, mosaic trisomy 8 in 13% of the cells, and a pericentric marker 8 ring chromosome in 27% of the cells. "
10/15/2004 - "We report on a 3-year-old male with developmental delay, autistic behavior, and minor abnormalities consistent with trisomy 8 syndrome whose cytogenetic analysis revealed mosaicism for a supernumerary ring chromosome (SRC). "
01/01/1995 - "These observations add to the evidence that supernumerary ring chromosomes, preferentially derived from chromosome 17, and trisomy 8 are non-random abnormalities in DFSP. "
01/01/1995 - "Cytogenetically, the lesion exhibited trisomy 8 and a supernumerary ring chromosome as the only clonal abnormalities found in about 35% of the cells analyzed. "
07/01/2001 - "The BLIN-4 sublines maintained the ring chromosome 4, but the trisomy 8 and trisomy 18 segregated into BLIN-4E and BLIN-4L, respectively. "
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. "
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. "
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."
02/01/1995 - "The other structural chromosomal aberrations were ring chromosome, marker chromosome and double minute chromatin bodies etc. The correlation between the chromosome changes and prognosis in GCT has not yet been determined, because of the short term of this study. "
08/01/2009 - "Classical cytogenetic, spectral karyotyping (SKY) and fluorescence in situ hybridization (FISH) studies of a blood sample obtained at diagnosis revealed the co-existence of t(X;14)(q28;q11), t(Y;14)(q12;q11) and a ring chromosome derived from i(8)(q10). "
01/01/2007 - "Although several reports have described the co-occurrence of autism in subjects with chromosome 22 abnormalities including trisomy 22, translocation 20/22, 22q11.2 deletion, ring chromosome 22, and 22q13.3 deletion, there is no report with 22q11.2 duplication. "
|9.||RNA-Directed DNA Polymerase (Reverse Transcriptase)IBA
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. "
|1.||Deep Brain Stimulation
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. "
06/16/2015 - "A 43-year-old woman who had had refractory epilepsy since the age of six years, for which she was treated with deep brain stimulation of the centromedian nucleus, and also a ring chromosome 20. "
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. "
|3.||Vagus Nerve Stimulation
01/01/2006 - "Epilepsy responds to vagus nerve stimulation in ring chromosome 20 syndrome."
10/01/2002 - "We report a case of a 6-year old girl with ring chromosome 20 syndrome whose medically intractable seizures were successfully treated with vagal nerve stimulation therapy. "
10/01/2002 - "Intractable epilepsy with ring chromosome 20 syndrome treated with vagal nerve stimulation: case report and review of the literature."
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."
09/01/1981 - "The yield of chromosome aberrations (dicentric chromosomes, ring chromosomes) induced in lymphocytes of four radiotherapy patients was determined. "
|5.||Nuclear Power Plants