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Using integrative tools can be effective for species identification, especially in complex groups like Astyanax. Astyanax bimaculatus group is composed of six valid species, including A. lacustris. "A. altiparanae", "A. asuncionensis", and "A. jacuhiensis" are considered as junior synonyms of A. lacustris. Seeking to test the operational taxonomic unit (OTU) status of the junior synonyms of A. lacustris ("A. altiparanae", "A. asuncionensis", and "A. jacuhiensis"), we used analyses through mitochondrial DNA (COI and Cytb), cytogenetic markers (classical and molecular), and morphometry ("truss network"). Analysis of mitochondrial DNA sequences separated A. lacustris from the other synonymized species. The cytogenetic and morphometric analyses did not corroborate the synonymization and suggest that besides A. lacustris, the OTUs A. altiparanae, A. asuncionensis, and A. jacuhiensis are valid species. The analysis of different characters proposed by the integrative taxonomy used on the same individuals could provide greater reliability and minimize the underestimation of biodiversity.

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ABSTRACT Chile is located in the south-western region of South America along the Pacific Ocean and contributes to the worldwide flora with ca. 6,120 species of Bryophyta, Pteridophyta, Pinophyta, Gnetophyta, and Magnoliophyta (1.9% of worldwide total species), exhibiting high endemism across all plant divisions. Little is known about the genetic diversity of Chilean land plants worldwide, including their cytogenetic and molecular characteristics. In 2012 we published the first state-of-the-art review in Cytogenetics of Chilean Angiosperms. The article gathered 78 publications from 1924 to 2010 accounting for approximately 139 species (2.8% of total Chilean species). The aim of this paper was to review the advances in cytogenetic studies of Chilean land plants, reporting additional cytogenetic data for species of four botanical divisions until 2020. Cytogenetic data were searched in the CPCD (Chilean Plants Cytogenetic Database). In total, we found 180 publications from both Chilean and foreign researchers. To date, cytogenetic data have been reported for 499 Chilean land plant species (8.2% of total) belonging to 244 genera and 117 families. In this context, the 2001-2020 period has been among the most productive regarding publications, with 74 available reports that include 163 additional species. Based on chromosome numbers, angiosperms and bryophytes registered the greatest diversity with 55 and 29 different 2n, respectively; both divisions having the greatest number of studied species. Given the importance of increasing information on Chilean land plants, it is expected that more publications will contribute to the knowledge of their cytogenetic diversity in the near future.

RESUMEN Chile está ubicado en la región suroeste de América del Sur a lo largo del Océano Pacífico y contribuye a la flora mundial con aproximadamente 6.120 especies de Bryophyta, Pteridophyta, Pinophyta, Gnetophyta y Magnoliophyta (1,9% del total de especies en todo el mundo), que presentan un alto endemismo en todas las divisiones de plantas. Poco se conoce sobre la diversidad genética de las plantas terrestres chilenas en todo el mundo, incluidas sus características citogenéticas y moleculares. En 2012 publicamos la primera revisión sobre el estado del arte en Citogenética de Angiospermas Chilenas. El artículo reunió 78 publicaciones desde 1924 hasta 2010, que representan aproximadamente 139 especies (2,8% del total de especies chilenas). El objetivo de este trabajo fue revisar los avances en estudios citogenéticos de plantas terrestres chilenas, reportando datos citogenéticos adicionales para especies de cuatro divisiones botánicas hasta el 2020. Los datos citogenéticos se buscaron en el CPCD (Base de Datos Citogenéticos de Plantas Chilenas). En total, encontramos 180 publicaciones sobre citogenética de plantas terrestres chilenas, con datos citogenéticos para 499 especies (8,2% del total) pertenecientes a 244 géneros y 117 familias. En este contexto, el período 2001-2020 ha sido uno de los más productivos en cuanto a publicaciones, con 74 artículos disponibles que incluyen 163 especies adicionales. Basado en los números cromosómicos, angiospermas y briófitos registran la mayor diversidad, con 55 y 29 2n diferentes, respectivamente; ambas divisiones tienen también el mayor número de especies estudiadas. Dada la importancia de incrementar la información sobre plantas terrestres chilenas, se espera que más publicaciones contribuyan al conocimiento de su diversidad citogenética en un futuro próximo.

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ABSTRACT Zephyranthes citrina is an ornamental American bulbous plant used as an ornamental garden crop for the aesthetic qualities of its yellow perigonium. The objective of this work was to characterize the species by classical chromosome staining and fluorochrome banding. A sporophytic chromosome number of 2n=8x=48 chromosomes was observed, being the karyotypic formula 20 m + 26 sm + 2 st. Satellites were detected in the short arm of metacentric chromosomes 8, 9, 11 and 12, which colocalized with constitutive heterochromatin CMA+/DAPI-/0 bands. The karyotype comprised chromosome pairs with terminal constitutive heterochromatin bands that included satellites and heteromorphic clusters indicating that it is an allooctoploid. These results will be used as a tool for monitoring genetic improvement, in interspecific crosses and its progenies and in biotechnological procedures by in vitro culture.

RESUMEN Zephyranhtes citrina es una planta bulbosa americana, ornamental, utilizada en jardines por las cualidades estéticas de su perigonio amarillo. El objetivo de este trabajo fue caracterizar citogenéticamente la especie con tinción clásica convencional y bandeo cromosómico. Se observó un número cromosómico esporofítico de 2n=8x=48, siendo la fórmula cariotípica 20 m + 26 sm + 2st. Se detectaron satélites en el brazo corto de los cromosomas metacéntricos 8, 9, 11 y 12, que co-localizaron con bandas de heterocromatina constitutiva CMA+/DAPI-. El cariotipo comprendió pares de cromosomas con bandas de heterocromatina constitutivas terminales que incluyeron satélites y grupos heteromórficos que indican que es un alooctoploide. Estos resultados serán usados como herramientas en el monitoreo del mejoramiento genético, en análisis de cruzamientos interespecíficos y progenies y en procedimientos biotecnológicos de cultivo in vitro.

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Proechimys species are remarkable for their extensive chromosome rearrangements, representing a good model to understand genome evolution. Herein, we cytogenetically analyzed 3 different cytotypes of Proechimys gr. goeldii to assess their evolutionary relationship. We also mapped the transposable element SINE-B1 on the chromosomes of P. gr. goeldii in order to investigate its distribution among individuals and evaluate its possible contribution to karyotype remodeling in this species. SINE-B1 showed a dispersed distribution along chromosome arms and was also detected at the pericentromeric regions of some chromosomes, including pair 1 and the sex chromosomes, which are involved in chromosome rearrangements. In addition, we describe a new cytotype for P. gr. goeldii, reinforcing the significant role of gross chromosomal rearrangements during the evolution of the genus. The results of FISH with SINE-B1 suggest that this issue should be more deeply investigated for a better understanding of its role in the mechanisms involved in the wide variety of Proechimys karyotypes.

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ABSTRACT Karyotypes of two Colocasia oresbia botanical varieties from Bangladesh were analyzed and compared with orcein, chromomycin A3 (CMA) and 4´-6 diamidino-2-phenylindole (DAPI). Both varieties had 2n=2x=26 chromosomes (karyotypic formula: 20m+6sm) and a pair of satellites each. Total chromosome length was 144.18 ± 2.45 μm in C. oresbia var. oresbia and 133.02 ± 2.75 μm in C. oresbia var. stolonifera. The karyotype of Colocasia oresbia var. oresbia is 2A whereas that of C. oresbia var. stolonifera is 1A. Six CMA and four DAPI bands were observed in C. oresbia var. oresbia and eight CMA and six DAPI bands in C. oresbia var. stolonifera. However, in these two morphologically distinct C. oresbia varieties of two different ecological zones, the same somatic chromosome number, diversification in various karyotypic parameters and CMA/DAPI-banding patterns were observed. In addition to taxonomic characters, the studied karyotype features will contribute to the characterization of these two C. oresbia varieties and to establish a base for future research.

RESUMEN Se analizaron y compararon los cariotipos de dos variedades botánicas de Colocasia oresbia de Bangladesh con orceína, chromomicina A3 (CMA) y 4-6 diamidino-2-phenilindol (DAPI). Ambas variedades presentaron 2n=2x=26 cromosomas (fórmula cariotípica: 20m+6sm) y un par de satélites cada una. La longitud total de cromosomas fue 144,18 ± 2,45 μm en C. oresbia var. oresbia y 133.02 ± 2.75 μm en C. oresbia var. stolonifera. El cariotipo de Colocasia oresbia var. oresbia es 2ª, y 1ª el de C. oresbia var. stolonifera. Se observaron seis bandas CMA y cuatro DAPI en C. oresbia var. oresbia y ocho bandas CMA y seis DAPI en C. oresbia var. stolonifera. Sin embargo, en estas dos variedades morfológicamente distintivas de C. oresbia de dos zonas ecológicas diferentes se observó el mismo número cromosómico somático, diversificación en varios parámetros cariotípicos y en patrones de bandeo CMA/DAPI. En adición a los caracteres taxonómicos, las características de los cariotipos estudiados contribuirán a la caracterización de estas dos variedades de C. oresbia y a establecer una base para futuras investigaciones.

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B chromosomes are extra genomic compounds found in different taxonomic groups, including plants and animals. Obtaining patterns of resolutive chromosomal bands is necessary to understand the nuclear organization, variability and nature of B chromosome chromatin and possible transcriptional regions. In this study, we analyzed 35 Astyanax scabripinnis specimens sampled from Fazenda Lavrinha, a stream in the Paraíba do Sul river basin, Brazil. Through the incorporation of the thymidine analog 5'-bromo-2'-deoxyuridine (5-BrdU) in vivo, it was possible to recognize the replicating regions of the B chromosome at the beginning of the S phase, differentially characterized in relationship to the regions of late replication. In this perspective, it is possible to suggest that the B chromosome of this species possesses a territory and the chromatin accessible for transcription, especially in the light (i.e., early replicating) bands (p1.1; p1.3; and p2.1 and q1.1, q1.3, q2.1, and q2.2). The late-replicating regions are corresponding to the blocks of constitutive heterochromatin. They show a preferential accumulation of satellite DNA As51. By the use of the fluorochrome chromomycin A3 (CMA3), it was possible to identify GC-rich chromosomal regions, corresponding to late-replicating parts of genome, confirming the revealed data by the replication banding and C-banding. In addition, the analysis by confocal microscopy in kidney cells indicates the location of a peripheral anchorage of this chromosome in the nuclear lamina, reinforcing the idea of downregulation of the associated regions.

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The 35S and 5S ribosomal DNA (rDNA) organized in thousands of copies in genomes, have been widely used in numerous comparative cytogenetic studies. Nevertheless, several questions related to the diversity and organization of regulatory motifs in 5S rDNA remain to be addressed. The 5S rDNA unit is composed of a conserved 120 bp length coding region and an intergenic spacer (IGS) containing potential regulatory motifs (Poly-T, AT-rich and GC-rich) differing in number, redundancy and position along the IGS. The Cestrum species (Solanaceae) have large genomes (about 10 pg/1C) and conserved 2n = 16 karyotypes. Strikingly, these genomes show high diversity of heterochromatin distribution, variability in 35S rDNA loci and the occurrence of B chromosomes. However, the 5S rDNA loci are highly conserved in the proximal region of chromosome 8. Comparison of seventy-one IGS sequences in plants revealed several conserved motifs with potential regulatory function. The AT- and GC-rich domains appeared highly conserved in Cestrum chromosomes. The 5S genic and the GC-rich IGS probe produced FISH signals in both A (pair 8) and B chromosomes. The GC-rich domain presented a strong potential for regulation because it may be associated with CpG islands organization, as well as to hairpin and loop organization. Another interesting aspect was the ability of AT- and GC-rich motifs to produce non-heterochromatic CMA/DAPI signals. While the length of the 5S rDNA IGS region varied in size between the Cestrum species, the individual sequence motifs seem to be conserved suggesting their regulatory function. The most striking feature was the conserved GC-rich domain in Cestrum, which is recognized as a signature trait of the proximal region of chromosome pair 8.

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The South American giant fishes of the genus Arapaima, commonly known as pirarucu, are one of the most iconic among Osteoglossiformes. Previously cytogenetic studies have identified their karyotype characteristics; however, characterization of cytotaxonomic differentiation across their distribution range remains unknown. In this study, we compared chromosomal characteristics using conventional and molecular cytogenetic protocols in pirarucu populations from the Amazon and Tocantins-Araguaia river basins to verify if there is differentiation among representatives of this genus. Our data revealed that individuals from all populations present the same diploid chromosome number 2n=56 and karyotype composed of 14 pairs of meta- to submetacentric and 14 pairs of subtelo- to acrocentric chromosomes. The minor and major rDNA sites are in separate chromosomal pairs, in which major rDNA sites corresponds to large heterochromatic blocks. Comparative genomic hybridizations (CGH) showed that the genome of these populations shared a great portion of repetitive elements, due to a lack of substantial specific signals. Our comparative cytogenetic data analysis of pirarucu suggested that, although significant genetic differences occur among populations, their general karyotype patterns remain conserved.(AU)

Os peixes gigantes da América do Sul do gêneroArapaima, comumente conhecidos como pirarucus, são um dos mais icônicos de Osteoglossiformes. Estudos citogenéticos prévios identificaram suas características cariotípicas, entretanto a caracterização da diferenciação citotaxonômica através de suas distribuições geográficas ainda são desconhecidas. Nesse estudo, nós comparamos características cromossômicas utilizando técnicas de citogenética clássica e molecular em populações das bacias dos rios Amazonas e Tocantins-Araguaia, a fim de verificar se há alguma diferenciação entre representantes desse gênero. Nossos dados revelaram que indivíduos de todas as populações apresentam número diploide de 2n=56 cromossomos e que seus cariótipos são compostos de 14 pares de cromossomos meta- e submetacêntricos e 14 pares de subtelo- e acrocêntricos. Os sítios maiores e menores de rDNA estão localizados em pares cromossômicos separados, onde os sítios maiores de rDNA correspondem a grandes blocos heterocromáticos. Hibridizações genômicas comparativas (CGH) mostraram que o genoma dos espécimes dessas populações é amplamente compartilhado, devido à falta de sinais substanciais específicos. Nossos dados de citogenética comparativa do pirarucu sugerem que embora diferenças genéticas significativas ocorram entre populações, os padrões cariotípicos gerais se mantêm conservados.(AU)

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The South American giant fishes of the genus Arapaima, commonly known as pirarucu, are one of the most iconic among Osteoglossiformes. Previously cytogenetic studies have identified their karyotype characteristics; however, characterization of cytotaxonomic differentiation across their distribution range remains unknown. In this study, we compared chromosomal characteristics using conventional and molecular cytogenetic protocols in pirarucu populations from the Amazon and Tocantins-Araguaia river basins to verify if there is differentiation among representatives of this genus. Our data revealed that individuals from all populations present the same diploid chromosome number 2n=56 and karyotype composed of 14 pairs of meta- to submetacentric and 14 pairs of subtelo- to acrocentric chromosomes. The minor and major rDNA sites are in separate chromosomal pairs, in which major rDNA sites corresponds to large heterochromatic blocks. Comparative genomic hybridizations (CGH) showed that the genome of these populations shared a great portion of repetitive elements, due to a lack of substantial specific signals. Our comparative cytogenetic data analysis of pirarucu suggested that, although significant genetic differences occur among populations, their general karyotype patterns remain conserved.(AU)

Os peixes gigantes da América do Sul do gêneroArapaima, comumente conhecidos como pirarucus, são um dos mais icônicos de Osteoglossiformes. Estudos citogenéticos prévios identificaram suas características cariotípicas, entretanto a caracterização da diferenciação citotaxonômica através de suas distribuições geográficas ainda são desconhecidas. Nesse estudo, nós comparamos características cromossômicas utilizando técnicas de citogenética clássica e molecular em populações das bacias dos rios Amazonas e Tocantins-Araguaia, a fim de verificar se há alguma diferenciação entre representantes desse gênero. Nossos dados revelaram que indivíduos de todas as populações apresentam número diploide de 2n=56 cromossomos e que seus cariótipos são compostos de 14 pares de cromossomos meta- e submetacêntricos e 14 pares de subtelo- e acrocêntricos. Os sítios maiores e menores de rDNA estão localizados em pares cromossômicos separados, onde os sítios maiores de rDNA correspondem a grandes blocos heterocromáticos. Hibridizações genômicas comparativas (CGH) mostraram que o genoma dos espécimes dessas populações é amplamente compartilhado, devido à falta de sinais substanciais específicos. Nossos dados de citogenética comparativa do pirarucu sugerem que embora diferenças genéticas significativas ocorram entre populações, os padrões cariotípicos gerais se mantêm conservados.(AU)

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In the present study, we analyzed individuals of Hypostomus soniae (Loricariidae) collected from the Teles Pires River, southern Amazon basin, Brazil. Hypostomus soniae has a diploid chromosome number of 2n = 64 and a karyotype composed of 12 metacentric (m), 22 submetacentric (sm), 14 subtelocentric (st), and 16 acrocentric (a) chromosomes, with a structural difference between the chromosomes of the two sexes: the presence of a block of heterochromatin in sm pair No. 26, which appears to represent a putative initial stage of the differentiation of an XX/XY sex chromosome system. This chromosome, which had a heterochromatin block, and was designated proto-Y (pY), varied in the length of the long arm (q) in comparison with its homolog, resulting from the addition of constitutive heterochromatin. It is further distinguished by the presence of major ribosomal cistrons in a subterminal position of the long arm (q). The Nucleolus Organizer Region (NOR) had different phenotypes among the H. soniae individuals in terms of the number of Ag-NORs and 18S rDNA sites. The origin, distribution and maintenance of the chromosomal polymorphism found in H. soniae reinforced the hypothesis of the existence of a proto-Y chromosome, demonstrating the rise of an XX/XY sex chromosome system.

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Pimelodidae family is one of the most diverse and widely distributed fish groups in South America. Phylogenetic analysis in the family have recently indicated the existence of two main clades: "sorubiminae" and the OCP clade, including Pimelodus ornatus, "calophysines" and "pimelodines." The aim of this study was to investigate the karyotype of three Amazonian Pimelodidae species: Calophysus macropterus, Propimelodus eigenmanni, and Exallodontus aguanai associating them to the literature, seeking to reconstruct probable ancestral characters. C. macropterus has 2n = 50, 20m+20sm+10a (fundamental number [FN] = 90), simple interstitial nucleolar organizing regions (NORs), and four 5S rDNA sites terminals, two in synteny with the 18S rDNA. P. eigenmanni has 2n = 56, 28m+20sm+2st+6a (FN = 106), simple NORs, and two 5S rDNA sites terminals. E. aguanai has 2n = 56, 36m+12sm+2st+6a (FN = 106) and 18S and 5S rDNA sites interstitial syntenic in the chromosome 1. All species exhibited a higher amount of heterochromatin, differing from the pattern of the family, and strong marking associated with NORs. The integration between molecular phylogenetic data and karyotype data indicated a high probability that 2n = 56 and simple terminals NORs in the short arm are ancestral characters in Pimelodidae, evidenced in "sorubiminae." In the OCP clade derived traits were observed resulting from chromosomal changes that played a critical role in the karyotype evolution of the group.

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The aim of the study was to characterize the type of aneuploidy present in the hybrid Urochloa ruziziensis × Urochloa decumbens and to confirm the origin of the additional chromosomes through comparative analysis of the hybrid and parental karyotypes. C and CMA banding techniques were used for chromosome differentiation. The parental genotypes showed 36 chromosomes. The hybrid presented plants with 36 + 2 chromosomes and plants with 36 + 1 chromosomes. Urochloa ruziziensis (4x) presented four chromosomes with CMA and C bands co-located in the terminal position. In U. decumbens, four chromosomes presented terminal CMA bands, eight chromosomes were distinguished by C banding with pericentromeric and terminal bands, one chromosome with terminal band at both ends and one chromosome presented one C terminal band. For the hybrid, CMA bands were found on five chromosomes and C bands on seven chromosomes, all in terminal position. Aneuploidy was identified in pairs 3' and 4' in the hybrid plants with 36 + 2 chromosomes, characterizing it as double trisomy. The karyotype of hybrid plants with 36 + 1 chromosomes indicated elimination of the additional chromosome identified in pair 4' and maintenance of trisomy on pair 3'. The comparative analysis of karyotypes indicates that the additional chromosomes that characterize the trisomy were inherited from U. ruziziensis (artificial tetraploid).

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Several studies on cytogenetic characterisation of passion flowers are helpful to elucidate doubts about taxa relationships, delimitation and classification into more coherent groups based on karyomorphological data. Molecular and conventional cytogenetic techniques were applied to three Passiflora species with red flowers, P. coccinea, P. vitifolia and P. tholozanii, for species karyotype relationships. Additionally, for descriptive morphology, were used flowers, leaves and seeds. Results describe for the first time the karyomorphological and chromosome number (2n = 18) for P. tholozanii. anova was performed (P < 0.05) and statistical significance for average chromosome size (CV: 16.53%) between species. Genomic in situ hybridisation (GISH) proved relationships between P. coccinea and P. tholozanii, which suggests a common origin, however, we could not identify hybridisation between genomic probes from P. vitifolia in P. tholozanii chromosomes. Among the species analysed, P. tholozanii has great similarity in karyotypic and morphology to P. coccinea but not to P. vitifolia. We suggest the inclusion of P. tholozanii in the same subgenus and section as P. coccinea based on the similarity in karyomorphological and morphological traits between the species. Additionally, GISH might indicate a common or hybrid origin of P. tholozanii.

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Thrichomys Trouessart, 1880 is a genus of echimyid rodents endemic to South America, distributed from northeastern Brazil to Paraguay and Bolivia. Although all the recognized species of this genus have already been karyotyped, detailed comparative cytogenetic analyses have not been performed yet. We karyologically analyzed four species of Thrichomys from different Brazilian states. Our analyses included GTG- and CBG-banding, silver-staining of the nucleolar organizer regions (Ag-NORs), and fluorescent in situ hybridization (FISH) with telomeric and 45S rDNA probes. Comparative GTG-banding suggested that the interspecific variation may result from Robertsonian rearrangements, pericentric and paracentric inversions, centromere repositioning, and heterochromatin variation. FISH with a telomeric probe showed interspecies variation in interstitial telomeric sequences (ITs) distribution. Our results represent the most complete data on the cytogenetics of Thrichomys reported to date and give an insight into the chromosome evolution of this genus.

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Trinomys Thomas (1921) is a terrestrial genus of spiny rats endemic to the Brazilian areas of Atlantic Forest and the transitional areas of Cerrado and Caatinga. Although most species have been already karyotyped, the available cytogenetic information is mostly restricted to diploid and fundamental numbers. We analyzed the chromosomes of two Trinomys species: Trinomys moojeni (2n = 56, FN = 106) and Trinomys setosus setosus (2n = 56, FN = 106 and 2n = 56, FN = 108). Our analyses included GTG- and CBG-banding, silver-staining of the nucleolar organizer regions, and chromosome mapping of telomeres and 45S rDNA by fluorescent in situ hybridization (FISH). Comparative GTG- and CBG-banding suggested that the interspecific variation may be due to rearrangements such as pericentric inversions, centromere repositioning, and heterochromatin variation. We report two new karyotypes for T. s. setosus and describe for the first time the banding patterns of the two Trinomys species.

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En pacientes con malformaciones congénitas y retraso del desarrollo psicomotor, deben descartarse cromosomopatías. Las más frecuentes son las translocaciones recíprocas balanceadas, presentes en 1:500 recién nacidos vivos. Por lo general, los portadores tienen fenotipo normal, aunque, ocasionalmente, presentan infertilidad, abortos o hijos con malformaciones. La translocación balanceada entre los cromosomas 2 y 9 puede originar descendencia con monosomías y trisomías de estos cromosomas. La monosomía del brazo corto del cromosoma 9 puede presentarse con trigonocefalia, dismorfias faciales, anomalías genitales y retraso del desarrollo psicomotor. En este trabajo, se revisaron las alteraciones de los cromosomas 2 y/o 9 en los cariotipos realizados en nuestra Institución en 2005-2014. Se presentan dos pacientes con monosomía 9p asociada a translocación (2;9). Las pacientes comparten datos de monosomía 9p24-pter; la correlación genotipo-fenotipo es compleja por el tamaño de los segmentos involucrados. Se resalta la importancia del diagnóstico cromosómico para el asesoramiento genético.

In patients with malformations and delayed psychomotor development it is important to discard chromosomopathies. Balanced reciprocal translocations are the most frequent chromosomopathies present in 1:500 live newborns. In general, carriers have normal phenotype, but they may have infertility, abortions or children with congenital malformations. The reciprocal translocation between chromosomes 2 and 9 can lead to offspring with monosomies and trisomies of these chromosomes. Short arm monosomy of chromosome 9 may present delayed psychomotor development, trigonocephaly, facial dysmorphia and genital abnormalities. We reviewed GTG karyotype records from our Institution to identify cases with chromosomes 2 and/or 9 alterations from 2005 to 2014. We describe two cases with monosomy 9p secondary to a translocation between chromosomes 2 and 9. The patients share features of monosomy 9p24-pter, however the genotype-phenotype correlation is complex due to the extension of the involved segments. We emphasize the importance of chromosomal diagnosis to offer genetic assessment.

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In patients with malformations and delayed psychomotor development it is important to discard chromosomopathies. Balanced reciprocal translocations are the most frequent chromosomopathies present in 1:500 live newborns. In general, carriers have normal phenotype, but they may have infertility, abortions or children with congenital malformations. The reciprocal translocation between chromosomes 2 and 9 can lead to offspring with monosomies and trisomies of these chromosomes. Short arm monosomy of chromosome 9 may present delayed psychomotor development, trigonocephaly, facial dysmorphia and genital abnormalities. We reviewed GTG karyotype records from our Institution to identify cases with chromosomes 2 and/or 9 alterations from 2005 to 2014. We describe two cases with monosomy 9p secondary to a translocation between chromosomes 2 and 9. The patients share features of monosomy 9p24-pter, however the genotypephenotype correlation is complex due to the extension of the involved segments. We emphasize the importance of chromosomal diagnosis to offer genetic assessment.

En pacientes con malformaciones congénitas y retraso del desarrollo psicomotor, deben descartarse cromosomopatías. Las más frecuentes son las translocaciones recíprocas balanceadas, presentes en 1:500 recién nacidos vivos. Por lo general, los portadores tienen fenotipo normal, aunque, ocasionalmente, presentan infertilidad, abortos o hijos con malformaciones. La translocación balanceada entre los cromosomas 2 y 9 puede originar descendencia con monosomías y trisomías de estos cromosomas. La monosomía del brazo corto del cromosoma 9 puede presentarse con trigonocefalia, dismorfias faciales, anomalías genitales y retraso del desarrollo psicomotor. En este trabajo, se revisaron las alteraciones de los cromosomas 2 y/o 9 en los cariotipos realizados en nuestra Institución en 2005-2014. Se presentan dos pacientes con monosomía 9p asociada a translocación (2;9). Las pacientes comparten datos de monosomía 9p24-pter; la correlación genotipo-fenotipo es compleja por el tamaño de los segmentos involucrados. Se resalta la importancia del diagnóstico cromosómico para el asesoramiento genético.

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The occurrence of repetitive DNA in autosomes and B chromosomes of Bergiaria westermanni was examined using conventional and molecular cytogenetic techniques. This species exhibited 2n = 56 chromosomes, with intra- and interindividual variation in the number of heterochromatic B chromosomes (from 0 to 4). The 5S rDNA was localized in pairs 1 and 5, and histone probes (H1, H3, and H4) and U2 small nuclear RNA were syntenic with 5S rDNA in pair 5. Histone sequences were also located in chromosome pair 14. The (GATA)n sequence was dispersed throughout the autosomes and B chromosomes, with clusters (microsatellite accumulation) in some chromosome regions. The telomeric probe revealed no signs of chromosomal rearrangements in the genome of B. westermanni. The 45S rDNA sites were detected in the terminal region of pair 27; these sites corresponded to a GC-rich heterochromatin block. In addition, 3 of the 4 B chromosomes also contained 45S rDNA copies. Silver nitrate staining in interphase nuclei provided indirect evidence of the expression of these rRNA genes in B chromosomes, indicating the probable origin of these elements. This report shows plasticity in the chromosomal localization of repeat DNA in B. westermanni and features a discussion of genomic diversification.

Assuntos

RESUMO

A detailed cytogenetic study on the leaf litter frog Eleutherodactylus johnstonei from 14 different Caribbean islands and the mainlands of Venezuela and Guyana revealed the existence of multimorphic XY♂/XX♀ sex chromosomes 14. Their male sex determination and development depends either on the presence of 2 telocentric chromosomes 14 (XtYt), or on 1 submetacentric chromosome 14 (Xsm) plus 1 telocentric chromosome 14 (Yt), or on the presence of 2 submetacentric chromosomes 14 (XsmYsm). The female sex determination and development requires either the presence of 2 telocentric chromosomes 14 (XtXt) or 2 submetacentric chromosomes 14 (XsmXsm). In all individuals analyzed, the sex chromosomes 14 carry a prominent nucleolus organizer region in their long arms. An explanation is given for the origin of the (XtYt)♂, (XsmYt)♂, (XsmYsm)♂, (XtXt)♀, and (XsmXsm)♀ in the different populations of E. johnstonei. Furthermore, the present study gives detailed data on the chromosome banding patterns, in situ hybridization experiments, and the genome size of E. johnstonei.

Assuntos

RESUMO

The genus Colomesus is the sole representative of the family Tetraodontidae in the Amazon region. Here, Colomesus asellus was analyzed using conventional and molecular cytogenetic protocols. Its diploid chromosome number is 2n = 46 with 12 meta-, 10 submeta-, 16 subtelo-, and 8 acrocentric chromosomes and a fundamental number of FN = 84. An XX/XY sex chromosome system was identified. Mapping of 18S rDNA correlated with the nucleolus organizer regions (Ag-NORs) in the short arms of the 2 X chromosomes in females and in the Y chromosome in males. C-banding revealed heterochromatin in the centromeric regions of all chromosomes, except for pair 3. Prominent sex chromosome-specific heterochromatin amplification was observed, covering the short arms of the Y chromosome almost entirely. FISH with telomeric and tropomyosin (tpm1) sequences, respectively, revealed terminal signals in all chromosomes. The analysis of extended DNA fibers confirmed the colocalization and the interspersed pattern of the telomeric and tpm1 sequences. Thus, this study highlights the remarkable evolutionary dynamism presented by the Amazonian puffer fish regarding the differentiation of a heteromorphic XY sex chromosome system and a particular sex-specific amplification of rDNA sites. This is the first record of such an association in the Tetraodontidae family.

Assuntos