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*  Ring chromosome
A ring chromosome is an aberrant chromosome whose ends have fused together to form a ring. Ring chromosomes were first ... Ring-chromosome-12-syndrome&title=Ring-chromosome-12-syndrome&search=Disease_Search_Simple "Ring chromosome 12 , Genetic and ... Ring-chromosome-16-syndrome&title=Ring-chromosome-16-syndrome&search=Disease_Search_Simple "Ring chromosome 16 , Genetic and ... Ring-chromosome-19-syndrome&title=Ring-chromosome-19-syndrome&search=Disease_Search_Simple "Ring chromosome 20 , Genetic and ...
*  Ring chromosome 20
... syndrome is one of the more common ring chromosome-associated conditions. This occurs when both ends of ... "Ring 20" (PDF). Rarechromo.org. Retrieved 1 December 2017. "Ring chromosome 20 - Genetic and Rare Diseases Information Center ( ... Some people with ring 20 chromosome have intellectual disability. A minority of those affected have abnormal facial features, ... "Orphanet: Ring chromosome 20 syndrome". Orpha.net. Retrieved 1 December 2017. ...
*  Ring chromosome 14 syndrome
Ring chromosome 18 syndrome Ring chromosome 20 syndrome Reference, Genetics Home. "ring chromosome 14 syndrome". Genetics Home ... and is called a constitutional ring. These rings arise spontaneously ( it is rarely inherited).Ring chromosome 14 syndrome ... Ring chromosome 14 syndrome is a very rare human chromosome abnormality. It occurs when one or both of the telomeres that mark ... Ring chromosome 14 syndrome is extremely rare, the true rate of occurrence is unknown (as it is less than 1 per 1,000,000), but ...
*  Ring chromosome 20 syndrome
Ring chromosome 20, ring-shaped chromosome 20 or r(20) syndrome is a rare human chromosome abnormality where the two arms of ... When not all cells contain a ring chromosome 20, the individual suffers from ring 20 chromosomal mosaicism.Ring Chromosome 20 ... A similar association between a ring chromosome and an autosomal-dominant disease has been reported for ring 17 chromosome and ... Occasionally, there is a variation, where the ring chromosome 20 syndrome is characterized by an extra ring chromosome in ...
*  22q13 deletion syndrome
... ring chromosome, unbalanced chromosomal translocation). Although early researchers sought a monogenic (single gene genetic ... "Molecular and phenotypic characterization of ring chromosome 22". American Journal of Medical Genetics Part A. 137 (2): 139-147 ... "Molecular and phenotypic characterization of ring chromosome 22 in two unrelated patients". Cytogenetic and Genome Research. ... That observation lead to an emphasis on the SHANK3 gene, which resides close to the terminal end of chromosome 22. Interest in ...
*  Lilian Vaughan Morgan
Morgan's second major contribution to the Drosophila genetic toolkit was the discovery of ring chromosomes. Ring chromosomes ... Morgan discovered the attached-X and ring chromosomes in Drosophila melanogaster. Normal Drosophila X-chromosomes have one ... which revealed a circularized X-chromosome upon cytological examination. Ring-X chromosomes are unstable in early development, ... A closed X chromosome in Drosophila melanogaster" Genetics 18:250-283. Morgan, L. V. 1938a. Origin of attached-X chromosomes in ...
*  Fryns syndrome
de Jong G, Rossouw RA, Retief AE (July 1989). "Ring chromosome 15 in a patient with features of Fryns' syndrome". J. Med. Genet ... 1991) found possible Fryns syndrome associated with anomalies of chromosome 15, chromosome 6, chromosome 8(human)and chromosome ... They identified submicroscopic chromosome deletions in 3 probands who had previously been diagnosed with Fryns syndrome and had ... September 2005). "Fryns syndrome phenotype caused by chromosome microdeletions at 15q26.2 and 8p23.1". J. Med. Genet. 42 (9): ...
*  Neocentromere
A chromosome is rearranged to give a ring chromosome, and a linear chromosome. Hence, in hindsight, the first observation of ... it is worth noting that the breakage-fusion-bridge cycle involves ring chromosomes too. Particularly, these ring chromosomes ... Out of the two derived from chromosome 10, one formed a ring and the other a "deleted" version of chromosome 10, labelled as ... The neocentromere can either appear on the linear chromosome or on the ring chromosome, depending on which ever one lacks a ...
*  Leukodystrophy
... in a patient with a constitutional ring chromosome 22". Journal of Medical Genetics. 32 (10): 787-91. doi:10.1136/jmg.32.10.787 ... The X chromosome is a sex chromosome, and since women have two "chances" of acquiring a normal X chromosome (one maternal, one ... To date, there have been no found cases of a leukodystrophy carried on the Y chromosome. MLD Foundation provides updates on MLD ... This means that the affected allele is carried on an autosomal, or non-sex, chromosome and is masked by the dominant, ...
*  Dermatofibrosarcoma protuberans
... from ring chromosomes to tyrosine kinase inhibitor treatment". Genes Chromosomes Cancer. 37 (1): 1-19. doi:10.1002/gcc.10202. ...
*  Turner syndrome
Isochromosome X or ring chromosome X on the other hand are formed equally often by both parents. Overall, the functional X ... Berkovitz G, Stamberg J, Plotnick LP, Lanes R (Jun 1983). "Turner syndrome patients with a ring X chromosome". Clin Genet. 23 ( ... Parental origin of X chromosomes and possible mechanism of formation of abnormal chromosomes". American Journal of Medical ... Turner syndrome is caused by the absence of one complete or partial copy of the X chromosome in some or all the cells. The ...
*  Rearrangement
Translocations Ring chromosomes Chromosomal inversions. ...
*  TRIM62
... , also called DEAR1 (for ductal epithelium-associated RING chromosome 1), is a protein in the tripartite motif family. In ...
*  Miller-Dieker syndrome
There may be unbalanced translocations (i.e. 17q:17p or 12q:17p), or the presence of a ring chromosome 17. This syndrome should ... The disorder arises from the deletion of part of the small arm of chromosome 17p (which includes both the LIS1 and 14-3-3 ... The loss of another gene, YWHAE, in the same region of chromosome 17 increases the severity of the lissencephaly in patients ... In the early 1990s, several patients with Miller-Dieker syndrome were found to be missing a small portion of chromosome 17. ( ...
*  Neochromosome
... produced following chromothriptic shattering of chromosome 12 undergo DNA repair to form of a circular or ring chromosome. This ... DNA from additional chromosomes is somehow added during this process. Erosion of centromeres can lead to the formation of ... A neochromosome is a chromosome that is not normally found in nature. Cancer-associated neochromosomes are found in some cancer ... The process ends when the neochromosome forms a linear chromosome following the capture of telomeric caps, which can be ...
*  Barbara McClintock
Through her work with X-ray-mutagenized maize, she identified ring chromosomes, which form when the ends of a single chromosome ... She showed that the loss of ring-chromosomes at meiosis caused variegation in maize foliage in generations subsequent to ... By studying the morphology of the chromosomes, McClintock was able to link specific chromosome groups of traits that were ... First, it showed that the rejoining of chromosomes was not a random event, and second, it demonstrated a source of large-scale ...
*  Saethre-Chotzen syndrome
Occasionally, individuals with SCS have a chromosome translocation, inversion, or ring chromosome 7 involving 7p21 resulting in ... Cytogenetic testing is the study of chromosomes to detect gains or losses of chromosomes or chromosome segments using ... The mouse TWIST gene is located on chromosome 12 in mice, which corresponds to the short arm of chromosome 7 in humans. With ... However, on occasion, children with a microdeletion of 7p21 (chromosome containing the locus responsible for SCS) develop new ...
*  Down syndrome
... or ring chromosome. These contain additional material from chromosome 21 and occur in about 2.5% of cases. An isochromosome ... In this situation, the long arm of chromosome 21 is attached to another chromosome, often chromosome 14. In a male affected ... As a result, a sperm or egg cell is produced with an extra copy of chromosome 21; this cell thus has 24 chromosomes. When ... with three copies of chromosome 21. About 88% of cases of trisomy 21 result from nonseparation of the chromosomes in the mother ...
*  Comparative genomic hybridization
This is because balanced chromosomal abnormalities such as reciprocal translocations, inversions or ring chromosomes do not ... 64'000 arrays, September 2014). NCBI's Cancer Chromosomes: Cancer Chromosome is an integral part of NCBI's Entrez system, which ... Genes, Chromosomes and Cancer 20:399-407. Pinkel D, Segraves R, Sudar D, Clark S, Poole I, Kowbel D, Collins C, Kuo W-L, Chen C ... Genes, Chromosomes and Cancer 10:231-243. Solinas‐Toldo S, Lampel S, Stilgenbauer S, Nickolenko J, Benner A, Döhner H, Cremer T ...
*  Cathepsin A
1992). "Ring chromosome 20 and possible assignment of the structural gene encoding human carboxypeptidase-L to the distal ... Wiegant J, Galjart NJ, Raap AK, d'Azzo A (1991). "The gene encoding human protective protein (PPGB) is on chromosome 20". ... segment of the long arm of chromosome 20". Am. J. Med. Genet. 43 (3): 576-9. doi:10.1002/ajmg.1320430314. PMID 1605251. Jackman ...
*  Extrachromosomal DNA
Most chloroplasts house all of their genetic material in a single ringed chromosome, however in some species there is evidence ... There is only one region of the mitochondrial chromosome that does not contain a coding sequence and that is the 1 kb region ... Double minute chromosomes (DMs) are also extrachromosomal elements that are associated with genome instability. DMs are ... DMs are thought to be produced through breakages in chromosomes or overreplication of DNA in an organism. Studies show that in ...
*  Chromosome 7 (human)
A circular structure called ring chromosome 7 is also possible. A ring chromosome occurs when both ends of a broken chromosome ... Chromosome 7 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 7 ... Velagaleti GV, Jalal SM, Kukolich MK, Lockhart LH, Tonk VS (Mar 2002). "De novo supernumerary ring chromosome 7: first report ... Lichtenbelt KD, Hochstenbach R, van Dam WM, Eleveld MJ, Poot M, Beemer FA (Jan 2005). "Supernumerary ring chromosome 7 ...
*  List of MeSH codes (C23)
... ring chromosomes MeSH C23.550.210.815 --- sex chromosome aberrations MeSH C23.550.210.815.970 --- xyy karyotype MeSH C23.550. ... chromosome fragility MeSH C23.550.210.170 --- chromosome breakage MeSH C23.550.210.175 --- chromosome deletion MeSH C23.550. ... 210.420 --- inversion, chromosome MeSH C23.550.210.430 --- isochromosomes MeSH C23.550.210.570 --- micronuclei, chromosome- ... chromosome fragility MeSH C23.550.382.250 --- eosinophilic granuloma MeSH C23.550.382.375 --- granuloma annulare MeSH C23.550. ...
*  Medical genetics
... characterizing chromosomal translocations and determining the origin of ring chromosomes. Chromosome painting is a technique ... A large number of different methods have been developed for chromosome analysis: Chromosome analysis using a karyotype involves ... Cytogenetics is the study of chromosomes and chromosome abnormalities. While cytogenetics historically relied on microscopy to ... Chromosome analysis is also performed in the prenatal setting to determine whether a fetus is affected with aneuploidy or other ...
*  List of MeSH codes (G13)
... ring chromosomes MeSH G13.920.590.175.815 --- sex chromosome aberrations MeSH G13.920.590.175.815.970 --- xyy karyotype MeSH ... chromosome fragility MeSH G13.920.590.175.175 --- chromosome breakage MeSH G13.920.590.175.177 --- chromosome deletion MeSH ... File "2006 MeSH Trees".) MeSH G13.330.159 --- gene flow MeSH G13.330.320 --- genetic drift MeSH G13.370.180 --- chromosome ... chromosome deletion MeSH G13.920.590.060 --- base pair mismatch MeSH G13.920.590.120 --- codon, nonsense MeSH G13.920.590.175 ...
*  Prokaryotic DNA replication
Chromosome replication in bacteria is regulated at the initiation stage. DnaA-ATP is hydrolyzed into the inactive DnaA-ADP by ... This catenation can be visualised as two interlinked rings which cannot be separated. Topoisomerase 2 in E. coli unlinks or ... Bird RE, Louarn J, Martuscelli J, Caro L (October 1972). "Origin and sequence of chromosome replication in Escherichia coli". ... Cooper, S.; Helmstetter, C. E. (1968-02-14). "Chromosome replication and the division cycle of Escherichia coli B/r". Journal ...