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Journal articles on the topic 'Chromosome polymorphism'

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1

Sotillo-Bent, Luis A., Johan Varela, Génesis Villarreal, et al. "Probable role of chromosomal polymorphisms in reproductive failure. Findings in the Panamanian population." Salud, Ciencia y Tecnología 5 (June 10, 2025): 1043. https://doi.org/10.56294/saludcyt20251043.

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Introduction: Chromosomal polymorphisms are variations in chromosomes in normal populations, generally affecting heterochromatic regions, which are poor in protein-coding genes. Several international studies associate the influence of chromosomal polymorphisms with pregnancy loss.Objective: To analyze and characterize the frequency and types of chromosomal polymorphisms found in these patients, as well as to explore possible correlations between these variations and the different reproductive disorders observed.Methods: Patients with reproductive disorders who had a polymorphic variant of chro
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2

Angelova, Lyudmila, Maria Tsvetkova, and Mariya Levkova. "CHROMOSOMAL POLYMORPHISM IN BULGARIAN PATIENTS WITH REPRODUCTIVE PROBLEMS – ONE GENETIC CENTRE EXPERIENCE." Journal of IMAB - Annual Proceeding (Scientific Papers) 27, no. 4 (2021): 4133–38. http://dx.doi.org/10.5272/jimab.2021274.4133.

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Chromosomal polymorphism is described as normal variants at chromosomal regions with no impact on the phenotype but a possible correlation to infertility and recurrent spontaneous abortions. The aim of this study was to evaluate the effect of the chromosomal polymorphisms involved in families with reproductive failures in the Bulgarian population. Material and methods: A total of 1733 patients with unexplained reproductive failures who visited the Laboratory of Medical Genetics – Varna, Bulgaria, (2004 - 2019) were investigated by conventional cytogenetic analysis GTG and CBG differential band
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3

Rovatsos, Michail T., Juan A. Marchal, Ismael Romero-Fernández, Maria Arroyo, Eva B. Athanasopoulou, and Antonio Sánchez. "Extensive Sex Chromosome Polymorphism of Microtus thomasi/Microtus atticus Species Complex Associated with Cryptic Chromosomal Rearrangements and Independent Accumulation of Heterochromatin." Cytogenetic and Genome Research 151, no. 4 (2017): 198–207. http://dx.doi.org/10.1159/000477114.

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The sibling species Microtus thomasi and M. atticus represent probably the highest karyotypic diversity within the genus Microtus and are an interesting model for chromosomal evolution studies. In addition to variation in autosomes, they show a high intraspecific variation in the size and morphology of both sex chromosomes. We analyzed individuals with different sex chromosome constitutions using 3 painting probes, 2 from Y chromosome variants and 1 from the small arm of the submetacentric X chromosome. Our comparative painting approach uncovered 12 variants of Y and 14 variants of X chromosom
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4

Mukhopadhyay, Saswati, Sujoy Dasgupta, Kushagradhi Ghosh, and Tania Mukherjee. "Investigating the relation between chromosomal polymorphism and recurrent pregnancy loss: A cohort study." Indian Journal of Obstetrics and Gynecology Research 9, no. 3 (2022): 391–96. http://dx.doi.org/10.18231/j.ijogr.2022.074.

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Chromosomal polymorphisms (CPM) are minor variation of karyotype, found in >1% of the general population. Heterochromatin, the inactive part of the chromosome, shows frequent polymorphism - increase/decrease in length. Recently, studies show that heterochromatin is not inert, but contains genes essential for spindle attachment, chromosome movement, meiotic pairing, and sister chromatid cohesion. Balanced translocation in parents, reciprocal and robertsonian, can disrupt important genes, and produce gametes with unbalanced gene dosage, causing spontaneous miscarriage. To correlate betwe
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5

Hashimoto, Diogo Teruo, and Fábio Porto-Foresti. "Chromosome polymorphism of heterochromatin and nucleolar regions in two populations of the fish Astyanax bockmanni (Teleostei: Characiformes)." Neotropical Ichthyology 8, no. 4 (2010): 861–66. http://dx.doi.org/10.1590/s1679-62252010000400016.

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Karyotype and other chromosomal markers as revealed by C-banding and silver (Ag) impregnation in two Astyanax bockmanni populations (Barra Seca Stream and Campo Novo River) were examined. The diploid chromosome number 2n = 50 and nearly identical karyotypes were documented. C-banding revealed heterochromatic blocks on the terminal regions of some chromosomes, with high frequencies of polymorphisms. The Ag-impregnation showed that the nucleolus organizer regions (NORs) varied in number, location and organization. Astyanax bockmanni revealed chromosome characteristics similar those of the specie
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6

Vieira, Cristina P., Paula A. Coelho, and Jorge Vieira. "Inferences on the Evolutionary History of theDrosophila americanaPolymorphicX/4Fusion From Patterns of Polymorphism at theX-LinkedparalyticandelavGenes." Genetics 164, no. 4 (2003): 1459–69. http://dx.doi.org/10.1093/genetics/164.4.1459.

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AbstractIn Drosophila there is limited evidence on the nature of evolutionary forces affecting chromosomal arrangements other than inversions. The study of the X/4 fusion polymorphism of Drosophila americana is thus of interest. Polymorphism patterns at the paralytic (para) gene, located at the base of the X chromosome, suggest that there is suppressed crossing over in this region between fusion and nonfusion chromosomes but not within fusion and nonfusion chromosomes. These data are thus compatible with previous claims that within fusion chromosomes the amino acid clines found at fused1 (also
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7

Wei, Jun-Zhi, William F. Campbell, and Richard R. C. Wang. "Standard Giemsa C-banded karyotype of Russian wildrye (Psathyrostachys juncea) and its use in identification of a deletion–translocation heterozygote." Genome 38, no. 6 (1995): 1262–70. http://dx.doi.org/10.1139/g95-166.

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Ten accessions of Russian wildrye, Psathyrostachys juncea (Fisch.) Nevski (2n = 2x = 14; NsNs), collected from different geographical regions were analyzed using the C-banding technique. C-banding pattern polymorphisms were observed at all levels, i.e., within homologous chromosome pairs of the same plant, among different individuals within accessions, between different accessions of the same geographic area, and among accessions of different origins. The seven homologous groups varied in the level of C-banding pattern polymorphism; chromosomes A, B, E, and F were more variable than chromosome
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8

Kaiser, P. E., J. A. Seawright, and B. K. Birky. "Chromosome polymorphism in natural populations of Anopheles quadrimaculatus Say species A and B." Genome 30, no. 2 (1988): 138–46. http://dx.doi.org/10.1139/g88-024.

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Ovarian polytene chromosomes from eight populations of Anopheles quadrimaculatus in the southeastern United States were observed for chromosomal polymorphisms. Two sibling species, species A and B, each with intraspecific inversions, were distinguished. Species A correlates with the previously published standard maps for salivary gland and ovarian nurse-cell polytene chromosomes. Species A was found at all eight collection sites, and five of these populations also contained species B. Three inversions on the right arm of chromosome 3 were observed in species A. Species B contained a fixed inve
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9

DUJARDIN, J. C., A. L. BAÑULS, J. P. DUJARDIN, J. AREVALO, M. TIBAYRENC, and D. LE RAY. "Comparison of chromosome and isoenzyme polymorphism in geographical populations of Leishmania (Viannia) peruviana." Parasitology 117, no. 6 (1998): 547–54. http://dx.doi.org/10.1017/s0031182098003357.

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Five chromosomes and 17 isoenzyme loci were analysed in 4 allopatric populations of Leishmania (Viannia) peruviana, and molecular distances calculated with 2 estimators, Chromosomal Size Difference Index and Jaccard Distance. Chromosome and isoenzyme data were in overall concordance: 13/30 isolates clustered similarly on the dendrograms constructed from the different estimators, and a significant correlation (P<0·001) was observed between the molecular distances calculated from the two sets of characters. This indicates an evolutionary association between chromosomal size polymorphism and i
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10

Kam-Morgan, L. N. W., B. S. Gill, and S. Muthukrishnan. "DNA restriction fragment length polymorphisms: a strategy for genetic mapping of D genome of wheat." Genome 32, no. 4 (1989): 724–32. http://dx.doi.org/10.1139/g89-503.

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The use of restriction fragment length polymorphisms (RFLPs) as genetic markers in bread wheat, Triticum aestivum, and a wild wheat progenitor, Aegilops squarrosa, was investigated. The objectives were (i) to identify RFLP loci; (ii) to assign cDNA sequences onto specific chromosomes and chromosome arms; and (iii) to determine linkage relationships between RFLP loci. A low level of polymorphism was found, utilizing barley cDNA clones as probes, in hexaploid cultivated wheats. However, accessions of A. squarrosa revealed greater polymorphism. Wheat–barley alien addition lines were used to assig
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11

Traldi, Josiane, Marcelo Vicari, Daniel Blanco, Juliana Martinez, Roberto Artoni, and Filho Orlando Moreira. "First karyotype description of Hypostomus iheringii (Regan, 1908): a case of heterochromatic polymorphism." Comparative Cytogenetics 6, no. (2) (2012): 115–25. https://doi.org/10.3897/compcytogen.v6i2.2595.

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In this study, which is the first karyotype analysis of <i>Hypostomus iheringii,</i> nine specimens collected in Córrego da Lapa (tributary of the Passa-Cinco River) showed a diploid number of 80 chromosomes. Silver nitrate staining and fluorescence <i>in situ</i> hybridization (FISH) with an 18S rDNA probe revealed the presence of multiple nucleolus organizer regions (NORs) (chromosome pairs 13, 20, and 34). FISH with a 5S rDNA probe showed that this cistron was only present in chromosome pair 2. When the karyotypes of individual animals were compared, unique heterochromatic polymorphisms wer
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12

Mariotto, Sandra, Liano Centofante, Carlos S. Miyazawa, Luiz Antonio Carlos Bertollo, and Orlando Moreira Filho. "Chromosome polymorphism in Ancistrus cuiabae Knaack, 1999 (Siluriformes: Loricariidae: Ancistrini)." Neotropical Ichthyology 7, no. 4 (2009): 595–600. http://dx.doi.org/10.1590/s1679-62252009000400006.

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Cytogenetic and FISH analyses were performed in 30 Ancistrus cuiabae specimens from a bay near the town of Poconé, in the Pantanal of Mato Grosso, Brazil. The observed diploid number was 2n = 34 chromosomes for both sexes and three distinct katyotypic formulae were found, namely cytotype A (20m, 8sm, 6st, Fundamental Number/FN = 68; 6 males and 11 females), cytotype B (19m, 8sm, 6st, 1a, FN = 67; 8 males and 4 females) and cytotype C (18m, 8sm, 6st, 2a, FN = 66; a single male). NORs's analyses showed that these regions were located in distinct sites on the NOR-bearing chromosome pair, accordin
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13

Valeri, Mirela P., Iara M. Tomazella, and José M. B. Duarte. "Intrapopulation Chromosomal Polymorphism in Mazama gouazoubira (Cetartiodactyla; Cervidae): The Emergence of a New Species?" Cytogenetic and Genome Research 154, no. 3 (2018): 147–52. http://dx.doi.org/10.1159/000488377.

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Mazama gouazoubira is a small deer species widely distributed in South America. Previous studies have shown that this species presents intraspecific chromosomal polymorphisms, which could affect fertility due to the effects of chromosomal rearrangements on gamete formation. Important aspects regarding the karyotype evolution of this species and the genus remain undefined due to the lack of information concerning the causes of this chromosomal variation. Nineteen individuals belonging to the Mazama gouazoubira population located in the Pantanal were cytogenetically evaluated. Among the individu
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14

Cabrero, Josefa, and Juan Pedro M. Camacho. "Population cytogenetics of Chorthippus vagans. I. Polymorphisms for pericentric inversion and for heterochromatin deletion." Genome 29, no. 2 (1987): 280–84. http://dx.doi.org/10.1139/g87-048.

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Two different polymorphisms have been identified in natural populations of the grasshopper Chorthippus vagans. One of these involved an inversion polymorphism in the M7 chromosome and was present in two populations from Granada. In one of these, from Prados del Pinar, the frequency of this polymorphism was constant over three consecutive generations, and meiotic studies of heterozygous individuals indicated that this inversion had not effect on male fertility. The second polymorphism involved a deletion of the distal C-band of the short arm of the M4 chromosome, which was observed in three dif
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15

Chassovnikarova, T., Nasko Atanasov, and H. Dimitrov. "Chromosome polymorphism in Bulgarian populations of the striped field mouse (Apodemus agrarius Pallas 1771)." Comparative Cytogenetics 3, no. (1) (2009): 1–9. https://doi.org/10.3897/compcytogen.v3i1.2.

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Chromosome polymorphism in Bulgarian populations of the striped field mouse (<em>Apodemus agrarius</em> Pallas, 1771) has been described. The diploid chromosome number is 2n=48 (NFa = 54). In the karyotype of 3 specimens from the Iskar region, the presence of an additional B chromosome has been established for the first time. The autosomes are 19 acrocentric pairs, continuously decreasing in size, and 4 pairs of bi-armed chromosomes, barely distinguishable by size and location of the centromere. Specimens with 3 pairs of metacentric chromosomes were firstly described in Bulgaria for the region
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16

Campenhout, S. Van, R. Aert, and G. Volckaert. "Orthologous DNA sequence variation among 5S ribosomal RNA gene spacer sequences on homoeologous chromosomes 1B, 1D, and 1R of wheat and rye." Genome 41, no. 2 (1998): 244–55. http://dx.doi.org/10.1139/g98-016.

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5S ribosomal gene spacer sequences from the short-spacer arrays of wheat and rye were isolated by PCR. The 29 new DNA sequences displayed noticeable heterogeneity at scattered positions. Nevertheless, based on shared DNA sequence polymorphisms, sequence alignment clearly classified the sequences into three groups. Group-specific primer sets were designed to allow chromosomal assignment by PCR on nullitetrasomic wheat stocks, as well as on wheat-rye translocation and addition lines. The three groups were assigned to orthologous loci 5S-Rrna-B1, 5S-Rrna-D1, and 5S-Rrna-R1 on homoeologous chromos
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17

Taran Kyzy, Jafar Aliyev. "Value heterochromatin and polymorphic varian gene folat cycle in women with miscarried and losses of pregnancy." HEALTH OF WOMAN, no. 9(115) (November 30, 2016): 148–51. http://dx.doi.org/10.15574/hw.2016.115.148.

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The article presents data from surveys of women of losses of pregnancy (LP) in history, conducted within the medical genetic counseling, given the urgency of specifying genetic factors that actually are in causal connection with the LP specification clinical effects of epigenetic variability. The objective: to clarify the meaning of the changes in women heterochromatin (chromosomal polymorphism) and polymorphic variants of genes folat cycle enzymes as potential risk factors and pathogenic primordial LP. Patients and methods. The study involved two groups of women: I - 154 observations with com
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18

Oliveira, Kelly Cristina de, Bianca Bianco, Ieda T. N. Verreschi, et al. "Prevalence of the polymorphism MTHFR A1298C and not MTHFR C677T is related to chromosomal aneuploidy in Brazilian Turner Syndrome patients." Arquivos Brasileiros de Endocrinologia & Metabologia 52, no. 8 (2008): 1374–81. http://dx.doi.org/10.1590/s0004-27302008000800028.

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BACKGROUND: Dysfunctions in the folate metabolism can result in DNA hypomethylation and abnormal chromosome segregation. Two common polymorphisms of this enzyme (C677T and A1298C) reduce its activity, but when associated with aneuploidy studies the results are conflicting. The objective of the present study is to analyze the MTHFR gene polymorphisms in women with Turner Syndrome and in a control group, correlating the findings to the chromosomal aneuploidy. METHODS: The study comprised 140 patients with Turner Syndrome, of which 36 with chromosome mosaicism and 104 non-mosaics, and a control g
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19

Sinthuwiwat, Thivaratana, Phanasit Poowasanpetch, Angsana Wongngamrungroj, et al. "Association of MTHFR Polymorphisms and Chromosomal Abnormalities in Leukemia." Disease Markers 32, no. 2 (2012): 115–21. http://dx.doi.org/10.1155/2012/292507.

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Genetic variation in MTHFR gene might explain the interindividual differences in the reduction of DNA repaired and the increase of chromosome breakage and damage. Nowadays, chromosomal rearrangement is recognized as a major cause of lymphoid malignancies. In addition, the association of MTHFR polymorphisms with aneuploidy was found in several studies, making the MTHFR gene as a good candidate for leukemia etiology. Therefore, in this study, we investigated the common sequence variation, 677C&gt;T and 1298A&gt;C in the MTHFR gene of 350 fixed cell specimens archived after chromosome analysis. T
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Ayala, Francisco J., Luis Serra, and Antonio Prevosti. "A grand experiment in evolution: the Drosophila subobscura colonization of the Americas." Genome 31, no. 1 (1989): 246–55. http://dx.doi.org/10.1139/g89-042.

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Drosophila subobscura is a Palearctic species that has been extensively studied by population and evolutionary geneticists for nearly half a century. In 1978, it appeared in Puerto Montt, Chile; within a few years it extended over much of Chile and into Argentina and became the most common drosophilid in many places. In 1982, it appeared in the American northwest; shortly thereafter it was found extensively distributed from southern British Columbia, through Washington and Oregon, into southern California, west of Sierra Nevada. In North America also it has become a common drosophilid in many
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21

Ocalewicz, K., and S. Dobosz. "Karyotype variation in the albino rainbow trout (Oncorhynchus mykiss (Walbaum))." Genome 52, no. 4 (2009): 347–52. http://dx.doi.org/10.1139/g09-009.

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A Robertsonian polymorphism resulting in diploid chromosome number ranging from 59 to 61 and constant chromosome arm number (fundamental number = 104) was observed in the albino rainbow trout ( Oncorhynchus mykiss (Walbaum)) from the yellow color strain. In one individual, 90 mitotic chromosomes and 156 chromosome arms were counted, indicating the fish as a triploid. Morphology of the chromosomes, DAPI staining, and the cytogenetic location of 5S rDNA sequences showed sex-related chromosomal heteromorphism in the specimens. Additionally, length polymorphism of the X chromosome was detected in
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22

Felip, Alicia, Atushi Fujiwara, William P. Young, et al. "Polymorphism and differentiation of rainbow trout Y chromosomes." Genome 47, no. 6 (2004): 1105–13. http://dx.doi.org/10.1139/g04-059.

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Most fish species show little morphological differentiation in the sex chromosomes. We have coupled molecular and cytogenetic analyses to characterize the male-determining region of the rainbow trout (Oncorhynchus mykiss) Y chromosome. Four genetically diverse male clonal lines of this species were used for genetic and physical mapping of regions in the vicinity of the sex locus. Five markers were genetically mapped to the Y chromosome in these male lines, indicating that the sex locus was located on the same linkage group in each of the lines. We also confirmed the presence of a Y chromosome
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23

Nishioka, Yutaka. "Two types of mouse (Mus musculus domesticus) Y chromosomes in Quebec." Genome 35, no. 3 (1992): 534–37. http://dx.doi.org/10.1139/g92-078.

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A Y chromosomal repetitive sequence identified two types of Y chromosomes in mice (Mus musculus domesticus) caught near Ste. Anne de Bellevue, Quebec. One type is apparently identical to the Y chromosome found in Maryland, Delaware, and California, whereas the other type is similar, but not identical, to the Y chromosome present in M.m. poschiavinus, an Alpine race of M.m. domesticus. These findings suggest that the domesticus Y chromosome is highly polymorphic and thus useful for elucidating the relationships among American and European house mouse populations.Key words: mouse Y chromosome, p
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24

Konerat, Jocicléia Thums, Vanessa Bueno, Lucas Baumgartner, Isabel Cristina Martins-Santos, and Vladimir Pavan Margarido. "B chromosome and NORs polymorphism in Callichthys callichthys (Linnaeus, 1758) (Siluriformes: Callichthyidae) from upper Paraná River, Brazil." Neotropical Ichthyology 12, no. 3 (2014): 603–9. http://dx.doi.org/10.1590/1982-0224-20130189.

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B chromosomes are extra chromosomes from the normal chromosomal set, found in different organisms, highlighting their presence on the group of fishes. Callichthys callichthys from the upper Paraná River has a diploid number of 56 chromosomes (26 m-sm + 30 st-a) for both sexes, with the presence of a sporadically acrocentric B chromosome. Moreover, one individual presented a diploid number of 57 chromosomes, with the presence of a morphologically ill-defined acrocentric B chromosome in all analyzed cells. The physical mapping of 5S and 18S rDNA shows multiple 5S rDNA sites and only one pair of
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Wu, Dandan, Namei Yang, Qian Xiang, et al. "Pseudorogneria libanotica Intraspecific Genetic Polymorphism Revealed by Fluorescence In Situ Hybridization with Newly Identified Tandem Repeats and Wheat Single-Copy Gene Probes." International Journal of Molecular Sciences 23, no. 23 (2022): 14818. http://dx.doi.org/10.3390/ijms232314818.

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The genus Pseudoroegneria (Nevski) Löve (Triticeae, Poaceae) with its genome abbreviated ‘St’ accounts for more than 60% of perennial Triticeae species. The diploid species Psudoroegneria libanotica (2n = 14) contains the most ancient St genome. Therefore, investigating its chromosomes could provide some fundamental information required for subsequent studies of St genome evolution. Here, 24 wheat cDNA probes covering seven chromosome groups were mapped in P. libanotica to distinguish homoelogous chromosomes, and newly identified tandem repeats were performed to differentiate seven chromosome
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26

Willhoeft, Ute, and Gerald Franz. "Comparison of the mitotic karyotypes of Ceratitis capitata, Ceratitis rosa, and Trirhithrum coffeae (Diptera: Tephritidae) by C-banding and FISH." Genome 39, no. 5 (1996): 884–89. http://dx.doi.org/10.1139/g96-111.

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The sex chromosomes of the tephritid fruit fly Ceratitis capitata (Wiedemann) are heteromorphic. The male-determining region was located on the Y chromosome by deletion mapping using unbalanced offspring from several translocation strains. In addition, we showed that only 15% of the Y chromosome is required for male determination and male fertility. Based on this result, we expected to find Y-chromosomal length polymorphism in natural populations. Using fluorescence in situ hybridization with two repetitive DNA probes that label the Y chromosome, no obvious size differences were detected in se
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Asamizu, Erika, Kenta Shirasawa, Hideki Hirakawa, et al. "Mapping of Micro-Tom BAC-End Sequences to the Reference Tomato Genome Reveals Possible Genome Rearrangements and Polymorphisms." International Journal of Plant Genomics 2012 (November 27, 2012): 1–8. http://dx.doi.org/10.1155/2012/437026.

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A total of 93,682 BAC-end sequences (BESs) were generated from a dwarf model tomato, cv. Micro-Tom. After removing repetitive sequences, the BESs were similarity searched against the reference tomato genome of a standard cultivar, “Heinz 1706.” By referring to the “Heinz 1706” physical map and by eliminating redundant or nonsignificant hits, 28,804 “unique pair ends” and 8,263 “unique ends” were selected to construct hypothetical BAC contigs. The total physical length of the BAC contigs was 495, 833, 423 bp, covering 65.3% of the entire genome. The average coverage of euchromatin and heterochr
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Eenennaam, A. L., J. D. Murray, and J. F. Medrano. "Mitotic analysis of the North American white sturgeon, Acipenser transmontanus Richardson (Pisces, Acipenseridae), a fish with a very high chromosome number." Genome 41, no. 2 (1998): 266–71. http://dx.doi.org/10.1139/g98-018.

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The average chromosome number of the North American white sturgeon, Acipenser transmontanus Richardson, was found to be 271 ± 2.5 (ranging from 265 to 276). This number is significantly higher than previous estimates for this species. A representative karyotype was found to consist of 132 meta- and submeta-centric chromosomes, 44 acrocentric chromosomes, and 98 microchromosomes. An improved C-banding technique revealed variation (2-7) between animals in the number of entirely heterochromatic metacentric chromosomes. These heterochromatic chromosomes may represent supernumerary chromosomes. The
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Gale, M. D., P. J. Sharp, S. Chao, and C. N. Law. "Applications of genetic markers in cytogenetic manipulation of the wheat genomes." Genome 31, no. 1 (1989): 137–42. http://dx.doi.org/10.1139/g89-025.

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A molecular map of wheat, Triticum aestivum, is being developed. Problems associated with the large genome size, the large number of linkage groups, polyploidy, and limited polymorphism at the DNA level are being overcome. In addition to the breeding applications expected from the map, various uses for restriction fragment length polymorphism markers as tools in cytogenetic manipulation of wheat chromosomes and those from related species are being found. These include identification of aneuploid genotypes, added precision in intervarietal chromosome manipulations, tests of chromosome stability
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30

Harshini, Vemula, P. Kumarasamy, and S. M. K. Karthickeyan. "A rare chromosomal polymorphism in a Kangayam bull (Bos indicus) of south India." Comparative Cytogenetics 15, no. 4 (2021): 459–65. http://dx.doi.org/10.3897/compcytogen.v15.i4.71295.

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A chromosomal polymorphism was detected on karyological screening of Kangayam breeding sires prior to subjecting them for frozen semen collection. One bull possessed the chromosomal complement 2n = 60, consisting of 58 acrocentric autosomes, one large sub-metacentric X-chromosome, and one small acrocentric Y-chromosome with a small visible p-arm, which was further confirmed using CBG- and GTG-banding. This polymorphism was attributed to a heterochromatin variation of the acrocentric Y-chromosome routine in the Bos indicus Linnaeus, 1758 cattle.
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Harshini, Vemula, P. Kumarasamy, and S.M.K. Karthickeyan. "A rare chromosomal polymorphism in a Kangayam bull (Bos indicus) of south India." Comparative Cytogenetics 15, no. (4) (2021): 459–65. https://doi.org/10.3897/CompCytogen.v15.i4.71295.

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A chromosomal polymorphism was detected on karyological screening of Kangayam breeding sires prior to subjecting them for frozen semen collection. One bull possessed the chromosomal complement 2n = 60, consisting of 58 acrocentric autosomes, one large sub-metacentric X-chromosome, and one small acrocentric Y-chromosome with a small visible p-arm, which was further confirmed using CBG- and GTG-banding. This polymorphism was attributed to a heterochromatin variation of the acrocentric Y-chromosome routine in the Bos indicus Linnaeus, 1758 cattle.
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32

Hatsumi, Machiko. "Karyotype polymorphism in Drosophila albomicans." Genome 29, no. 3 (1987): 395–400. http://dx.doi.org/10.1139/g87-069.

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Supernumerary (B) chromosomes are present in Thai, Malay, and Burmese populations of Drosophila albomicans (2n = 6) in a polymorphic state. Although usually stable at mitosis, their numbers differed between individuals and their frequency was also different between isofemale lines and between populations. Arm 3 of the X3 chromosome was polymorphic for the presence and the size of a procentric heterochromatic segment. Chromosome 4 is polytypic for variation in length governed by differences in the amount of heterochromatin and the long variant is polymorphic for the location of its secondary co
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33

Vorsanova, S. G., I. V. Solovyev, O. S. Kurinnaya, et al. "The Y chromosome disomy syndrome (47, XYY) in children with mental retardation, deviations of sex development and different genome anomalies: molecular cytogenetic studies." Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 65, no. 2 (2020): 40–48. http://dx.doi.org/10.21508/1027-4065-2020-65-2-40-48.

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The article present the results of retrospectively analyzed children (4424 boys) with mental and psychomotor retardation, congenital malformations and/or developmental micro anomalies. 23 children had various forms of Y chromosome dysomy syndrome. The frequency of this syndrome in the studied cohort was 0.52%; and in this connection the authors discussed the role of Y-chromosome in the origin of mental retardation. Besides, the chromosome instability in sex and somatic cells is supposed to be a common mechanism of different chromosomal anomalies. The authors discussed the possibility of cytoge
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34

Buño, I., J. L. Fernández, C. López-Fernández, J. L. Díez-Martín та J. Gosálvez. "Sau3A in situ digestion of human chromosome 3 pericentromeric heterochromatin. I. Differential digestion of α-satellite and satellite 1 DNA sequences". Genome 44, № 1 (2001): 120–27. http://dx.doi.org/10.1139/g00-088.

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In situ digestion with the restriction endonuclease (RE) Sau3A (Sau3A REISD) uncovers a polymorphism for the pericentromeric heterochromatin of human chromosome 3, which can be positively stained (3+) or not (3–), and has proven useful to differentiate donor and recipient cells after sex-matched bone marrow transplantation and to analyze the so-called hemopoietic chimerism. The aim of the present investigation was to obtain insight into the molecular basis of such polymorphism to optimize its use for chimerism quantification using methodological approaches other than REISD. To this end, fluore
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35

Maffei, E. M. D., M. A. Marin-Morales, P. M. Ruas, and C. F. Ruas. "Numerical chromosome polymorphism in Mikania cordifolia Willd. (Asteraceae)." Genetics and Molecular Biology 22, no. 4 (1999): 609–12. http://dx.doi.org/10.1590/s1415-47571999000400023.

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Cytogenetical analysis of Mikania cordifolia, from southeastern Brazil, using the conventional Feulgen method, showed a chromosome number of 2n = 36. Previous karyotypic descriptions for this species showed a numerical chromosome variation of 2n = 34 to 38. There was a secondary constriction in every metaphase in the first chromosome pair, which constitutes a cytological marker. Small extranumerary chromosomes with numerical variation in the same plant were found in the tenth chromosome pair.
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36

Kokotas, Haris, Maria Grigoriadou, Margareta Mikkelsen, Aglaia Giannoulia-Karantana, and Michael B. Petersen. "Investigating the Impact of the Down Syndrome Related Common MTHFR 677C>T Polymorphism in the Danish Population." Disease Markers 27, no. 6 (2009): 279–85. http://dx.doi.org/10.1155/2009/725614.

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Chromosomal aneuploidy consists the leading cause of fetal death in our species. Around 50% of spontaneous abortions until 15 weeks of gestational age are chromosomally aneuploid, with trisomies accounting for 50% of the abnormal abortions. Trisomy 21 is the most common chromosome abnormality in liveborns and is usually the result of nondisjunction of chromosome 21 in meiosis in either oogenesis or spermatogenesis. To investigate the relationship between folate metabolism and Down syndrome (DS) in a Danish population, we analyzed the common 677C&gt;T genetic polymorphism in the methylenetetrah
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37

Ramírez, Corália CL, and Eliana MB Dessen. "Chromosomal evidence for sibling species of the malaria vector Anopheles cruzii." Genome 43, no. 1 (2000): 143–51. http://dx.doi.org/10.1139/g99-103.

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An analysis of the ovarian polytene chromosomes of Anopheles cruzii from three localities in Southeast Brazil revealed the existence of two genetic entities within this morphologically uniform taxon. These cryptic species differed in the banding patterns of the X chromosome and 3L arm. A pattern of bands that cannot be explained by the fixation of any of the known inversions in chromosome X was revealed and named chromosomal form B to distinguish it from the standard pattern of this X chromosome, form A. Each chromosomal form is characterized by a different set of inversions. The lack of heter
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38

HENRIKSSON, J., J. C. DUJARDIN, C. BARNABÉ, et al. "Chromosomal size variation in Trypanosoma cruzi is mainly progressive and is evolutionarily informative." Parasitology 124, no. 3 (2002): 277–86. http://dx.doi.org/10.1017/s0031182001001093.

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The evolutionary significance of chromosome size polymorphism was explored in a representative panel of 26 Trypanosoma cruzi stocks. We tested a progressive model (aCSDI) assuming that the larger the size difference between homologous chromosomes, the more divergent the parasites are. This was contrasted with a non-progressive model (Jaccard's distance), in which any chromosome size difference has the same weight. ACSDI-based dendrograms were very similar to those built-up from multilocus enzyme electrophoresis (MLEE) and random amplified polymorphic DNA (RAPD) data: structuring in 2 major lin
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39

Sangines, N., and M. Aguilera. "Chromosome polymorphism in Holochilus venezuelae (Rodentia: Cricetidae): C- and G-bands." Genome 34, no. 1 (1991): 13–18. http://dx.doi.org/10.1139/g91-003.

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Karyological analysis of C- and G-banding patterns of 44 specimens of Holochilus venezuelae revealed six distinct karyomorphs, which were designated as follows: I (2n = 44; fundamental number (FN) = 56); II (2n = 45; FN = 58); IV (2n = 43; FN = 56);V(2n = 44; FN = 58); IV-a(2n = 42; FN = 56); and V-a (2n = 44; FN = 58). This chromosomal polymorphism is interpreted as the result of (i) one or two Robertsonian changes of the centric-fusion type, originating from one member of chromosome pair 10 and one of pair 11 (in karyotypes IV and V) and two metacentric chromosomes from pairs 10 and 11 (in k
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40

Zolan, M. E., N. K. Heyler, and N. Y. Stassen. "Inheritance of chromosome-length polymorphisms in Coprinus cinereus." Genetics 137, no. 1 (1994): 87–94. http://dx.doi.org/10.1093/genetics/137.1.87.

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Abstract We have investigated the inheritance of chromosome-length polymorphisms in the basidiomycete Coprinus cinereus. The electrophoretic karyotypes of interfertile strains of C. cinereus are strikingly different, and crosses between strains with different karyotypes yield progeny with chromosomes of new sizes. Repeated backcrossing of a mutant to one parent often stabilizes the mutant chromosome at a unique size; this then becomes a chromosome-length polymorphism marker for that mutant gene. A comparison of mutant strains, their wild-type progenitor, and backcrossed strains revealed that t
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41

Vahidi, Parisa, Seyed Ali Rahmani, and Nahid Hadige Rezvan. "Study of pregnant women with high risk of fetus abnormalities by routine cytogenetics method (karyotyping) and molecular method (FISH) by using X and Y probs and comparing the advantages and disadvantages of these methods in the northwest of Iran's patients." Medical Journal of Tabriz University of Medical Sciences and Health Services 43, no. 1 (2021): 108–15. http://dx.doi.org/10.34172/mj.2021.035.

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Background: The health of the fetus during the 9 months of pregnancy is very important for every pregnant couple. Identifying carriers of the genetic diseases and their diagnosis before birth, controls the disease's prevalence and does not impose huge costs on the patient's family and community. This study aimed to evaluate the rapid prenatal diagnosis importance in the chromosomal abnormalities identification. Methods: 50 amniotic fluid samples were studied by karyotyping and fluorescence in situ hybridization (FISH). Karyotyping was performed on me taphase chromosomes to identify all the chr
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42

Yi, Soojin, Doris Bachtrog, and Brian Charlesworth. "A Survey of Chromosomal and Nucleotide Sequence Variation inDrosophila miranda." Genetics 164, no. 4 (2003): 1369–81. http://dx.doi.org/10.1093/genetics/164.4.1369.

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AbstractThere have recently been several studies of the evolution of Y chromosome degeneration and dosage compensation using the neo-sex chromosomes of Drosophila miranda as a model system. To understand these evolutionary processes more fully, it is necessary to document the general pattern of genetic variation in this species. Here we report a survey of chromosomal variation, as well as polymorphism and divergence data, for 12 nuclear genes of D. miranda. These genes exhibit varying levels of DNA sequence polymorphism. Compared to its well-studied sibling species D. pseudoobscura, D. miranda
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43

G, Pranay, NS Tomar, Divya Balakrishnan, et al. "Assessment of Parental Polymorphism between Swarna / Oryza rufipogon IC309814 Derived Mapping Population." Journal of Advances in Biology & Biotechnology 27, no. 12 (2024): 358–67. https://doi.org/10.9734/jabb/2024/v27i121783.

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Detection of molecular markers with parental polymorphism is a pre-requisite for QTL mapping and further identification of genomic regions. PCR based InDel markers tend to have a greater degree to show polymorphism among the parental genotypes for any specific cross. Polymorphic studies were carried out between the two parents Swarna (Cultivated rice variety) and Oryza rufipogon IC309814 (Wild rice accession) using 192 randomly selected InDel markers and 40 gene specific markers for Iron and Zinc covering the entire 12 chromosomes. Results revealed that InDel markers were polymorphic between b
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44

Federico, Concetta, Desiree Brancato, Francesca Bruno, Daiana Galvano, Mariella Caruso, and Salvatore Saccone. "Robertsonian Translocation between Human Chromosomes 21 and 22, Inherited across Three Generations, without Any Phenotypic Effect." Genes 15, no. 6 (2024): 722. http://dx.doi.org/10.3390/genes15060722.

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Chromosomal translocations can result in phenotypic effects of varying severity, depending on the position of the breakpoints and the rearrangement of genes within the interphase nucleus of the translocated chromosome regions. Balanced translocations are often asymptomatic phenotypically and are typically detected due to a decrease in fertility resulting from issues during meiosis. Robertsonian translocations are among the most common chromosomal abnormalities, often asymptomatic, and can persist in the population as a normal polymorphism. We serendipitously discovered a Robertsonian transloca
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45

Romanenko, Svetlana A., Antonina V. Smorkatcheva, Yulia M. Kovalskaya, et al. "Complex Structure of Lasiopodomys mandarinus vinogradovi Sex Chromosomes, Sex Determination, and Intraspecific Autosomal Polymorphism." Genes 11, no. 4 (2020): 374. http://dx.doi.org/10.3390/genes11040374.

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The mandarin vole, Lasiopodomys mandarinus, is one of the most intriguing species among mammals with non-XX/XY sex chromosome system. It combines polymorphism in diploid chromosome numbers, variation in the morphology of autosomes, heteromorphism of X chromosomes, and several sex chromosome systems the origin of which remains unexplained. Here we elucidate the sex determination system in Lasiopodomys mandarinus vinogradovi using extensive karyotyping, crossbreeding experiments, molecular cytogenetic methods, and single chromosome DNA sequencing. Among 205 karyotyped voles, one male and three f
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46

Shanahan, Catherine M. "Cytogenetics of Australian scorpions. II. Chromosome polymorphism in species of Urodacus (family Scorpionidae)." Genome 32, no. 5 (1989): 890–900. http://dx.doi.org/10.1139/g89-526.

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The cytogenetic features of six species of scorpion from the Australian genus Urodacus (family Scorpionidae) were examined. Australian scorpionids possess monocentric chromosomes and male meiosis is achiasmate. Chromosome numbers are generally high and in some species extremely variable. Chromosome variation in one species, U. manicatus, was found to be due to fusion – fission polymorphism and variation in the number of small telocentric chromosome pairs. Additionally two populations exhibited extensive inversion heterozygosity. Available evidence suggests that female meiosis may also be achia
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47

Nagano, Yasuhiko, Do Ha Kim, Li Zhang, et al. "Allelic alterations in pancreatic endocrine tumors identified by genome-wide single nucleotide polymorphism analysis." Endocrine-Related Cancer 14, no. 2 (2007): 483–92. http://dx.doi.org/10.1677/erc-06-0090.

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Pancreatic endocrine tumors (PETs) are uncommon and the genetic alterations in these indolent tumors are not well characterized. Chromosomal imbalances are frequent in tumors but PETs have not been studied by high-density single nucleotide polymorphism (SNP) array. We used genome-wide high-density SNP array analysis to detect copy number alterations using matched tumor and non-neoplastic tissue samples from 15 patients with PETs. In our study, whole or partial loss of chromosomes 1, 3, 11, 22 was present in 40, 47, 53, 40% of tumors respectively, and gain of chromosomes 5, 7, 12, 14, 17, and 2
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48

Durnova, Natalya, Ludmila Sigareva, and Olga Sinishkina. "Chromosome analysis of Endochironomus albipennis Meigen, 1830 and morphologically similar Endochironomus sp. (Diptera, Chironomidae) from water bodies of the Volga region, Russia." Comparative Cytogenetics 9, no. (4) (2015): 579–93. https://doi.org/10.3897/CompCytogen.v9i4.5172.

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Based upon the detailed chromosome map of polytene chromosomes of the eurybiont species Endochironomus albipennis Meigen, 1830, the localization of the centromere regions using a C-banding technique is defined. Chromosomal polymorphism in populations from two water bodies in the Volga region has been studied, 17 sequences are described. Polytene chromosomes of Endochironomus sp. (2n=6), having larvae morphologically similar to those of E. albipennis Meigen, 1830 (2n=6) are described for the first time.
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49

Maffei, Eliane M. D., M. A. Marin-Morales, P. M. Ruas, C. F. Ruas, and N. I. Matzenbacher. "Chromosomal polymorphism in 12 populations of Mikania micrantha (Compositae)." Genetics and Molecular Biology 22, no. 3 (1999): 433–44. http://dx.doi.org/10.1590/s1415-47571999000300025.

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Mikania micrantha is a climbing perennial weed of the family Asteraceae, with a vast distribution from South America to south of the United States. This species is widely distributed throughout Brazil, where it shows little morphological variation. Mitotic chromosomes of 12 populations of M. micrantha derived from several Brazilian sites were studied using Feulgen staining and C-banding. The populations included eight diploid (2n = 36 and 42) and four tetraploid (2n = 72) cytotypes. Chromosome numbers of 2n = 36 and 2n = 42 are reported for the first time for M. micrantha. These populations ha
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50

Woznicki, Pawel, Malgorzata Jankun, and Miroslaw Luczynski. "Chromosome polymorphism in." Aquatic Sciences 60, no. 4 (1998): 367. http://dx.doi.org/10.1007/s000270050047.

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