8 resultados para supernumerary

em Biblioteca Digital da Produção Intelectual da Universidade de São Paulo (BDPI/USP)


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Chromosomes of the South American geckos Gymnodactylus amarali and G. geckoides from open and dry areas of the Cerrado and Caatinga biomes in Brazil, respectively, were studied for the first time, after conventional and AgNOR staining, CBG- and RBG-banding, and FISH with telomeric sequences. Comparative analyses between the karyotypes of open areas and the previously studied Atlantic forest species G. darwinii were also performed. The chromosomal polymorphisms detected in populations of G. amarali from the states of Goias and Tocantins is the result of centric fusions (2n = 38, 39 and 40), suggesting a differentiation from a 2n = 40 ancestral karyotype and the presence of supernumerary chromosomes. The CBG- and RBG-banding patterns of the Bs are described. G. geckoides has 40 chromosomes with gradually decreasing sizes, but it is distinct from the 2n = 40 karyotypes of G. amarali and G. darwinii due to occurrence of pericentric inversions or centromere repositioning. NOR location seems to be a marker for Gymnodactylus, as G. amarali and G. geckoides share a medium-sized subtelocentric NOR-bearing pair, while G. darwinii has NORs at the secondary constriction of the long arm of pair 1. The comparative analyses indicate a non-random nature of the Robertsonian rearrangements in the genus Gymnodactylus. Copyright (C) 2010 S. Karger AG, Basel

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Objective: To radiographically evaluate the prevalence of tooth abnormalities of number and position in the permanent dentition of individuals with complete bilateral cleft lip and palate. Design: Cross-sectional retrospective. Setting: Hospital for Rehabilitation of Craniofacial Anomalies, University of Sao Paulo, Bauru, Brazil. Patients: Two hundred five individuals with complete bilateral cleft lip and palate. Interventions: Analysis of patient records and panoramic radiographs. Main outcome measures: Evaluation of hypodontia and supernumerary teeth and analysis of the position of the permanent maxillary lateral incisor in relation to the alveolar cleft. Results: Hypodontia was observed in 144 patients (70.2%), and the highest prevalence was observed for the maxillary lateral incisor. When both lateral incisors were present (43%), they were primarily located on the distal side of the cleft (25%). Supernumerary teeth were observed in 11.7% of individuals. Conclusion: Patients with cleft lip and palate presented high prevalence of hypodontia and supernumerary teeth. The prevailing characteristics of their location may suggest the presence of a similar genetic component for the occurrence of hypodontia and cleft.

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Objective: To radiographically evaluate the prevalence of dental anomalies in patients with complete and incomplete bilateral cleft lip, comparing the prevalence of anomalies between genders and cleft types. Setting: Hospital for Rehabilitation of Craniofacial Anomalies, University of Sao Paulo (HRAC/USP), Bauru, Sao Paulo, Brazil. Participants: 150 randomly selected panoramic radiographs of individuals with complete or incomplete bilateral cleft lip; patient age 12 to 25 years (mean age 13.8 years). Results: Data were statistically analyzed to compare the possible association between presence of hypodontia and supernumerary teeth, according to gender and cleft type. Among the 150 patients evaluated, 80 (53.3%) were male and 70 (46.6%) were female. Since no statistically significant difference was found in hypodontia between genders, data were grouped for analysis, revealing prevalence of 31.6% for complete clefts and 26.8% for incomplete clefts. Concerning supernumerary teeth, the prevalence for the male patients was 28.2% for complete cleft lip and 29.2% for incomplete cleft lip. For female patients, the prevalence was significantly (p = .006) lower for complete cleft lip (17.5%) than for incomplete cleft lip (46.6%). Conclusions: The present results suggest that the prevalence of hypodontia was higher in patients with complete cleft lip, and the prevalence of supernumerary teeth was higher in patients with incomplete cleft lip, in agreement with previous studies.

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Supernumerary marker chromosomes (sSMC) may or may not be associated with an abnormal phenotype, depending on the presence of euchromatin, on their chromosomal origin and whether they are inherited. Over 80% of sSMCs are derived from acrocentric chromosomes and half of them include the short arm of chromosome 15. Generally, they appear as bisatellited isodicentric marker chromosomes, most of them are symmetric. These chromosomes are normally originated de novo and are associated with mild to severe intellectual disability but not with physical abnormalities. We report on a patient with an SMC studied using classical and molecular cytogenetic procedures (G and C banding, NOR staining, painting and centromeric fluorescent in situ hybridization (FISH), BAC-FISH, and SKY). The MLPA technique and DNA polymorphic markers were used in order to identify its parental origin. The marker chromosome, monosatellited and monocentric, was found to be derived from a maternal chromosome 15 and was defined as 15pter-q21.2. This is the report of the largest de novo monosatellited 15q marker chromosome ever published presenting detailed cytogenetic and clinical data. It was associated with a phenotype including cardiac defect, absence of septum pellucidum, and dysplasia of the corpus callosum. (C) 2010 Wiley-Liss, Inc.

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Cytogenetic analyses were carried out in five species of Pimelodella from the main sub-basins of Upper Parana River and Paraiba do Sul River. The diploid number ranged from 2n = 46 to 2n = 58 chromosomes, and all populations differed in the karyotype constitution. The presence of supernumerary chromosomes as well as the occurrence of a XX/XY sex chromosome system and heterochromatin polymorphisms were detected. The 18S rDNA FISH confirmed the presence of single NORs and revealed additional sites on supernumerary chromosomes. The number and location of 5S rDNA sites were variable. Aspects related to the karyotypic evolution within the genus are discussed.

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Stingless bees of the genus Partamona are distributed from southern Mexico to southern Brazil. This genus has been subject to different approaches to solve questions concerning general biology, taxonomy, systematics and biogeography, but population studies applying molecular techniques are inexistent. We analyzed the genetic structure of P. helleri across its geographic distribution along the coastal Atlantic tropical rainforest in Brazil. Ten mtDNA haplotypes were observed in 47 colonies of P. helleri of which some were exclusive and others shared among geographic sub-groups. Statistical analysis showed high genetic differentiation between geographic areas sampled. Fragmentation of the Atlantic forest during Pleistocene glaciations is discussed as a possible cause of the present haplotype distribution and frequency.

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Mitotic chromosomes of Metynnis maculatus (KNER 1860) (Teleostei, Characiformes), a fish species that occurs in the Amazon and Parana-Paraguay river basins, were analyzed for the first time by Giemsa and Ag-NOR staining, C-banding and fluorescence in situ hybridization (FISH) with 18S and 5S rDNA sequences. The basic chromosome number of the species is 2n=62 (32M+22SM+4ST+4A) and, in addition to the 62 regular chromosomes, one small acrocentric supernumerary B chromosome was found in part of the specimens analyzed. Four active NORs were present, and constitutive heterochromatin blocks were found in the pericentromeric region of several chromosomes. A heterochromatic block was also present in the interstitial portion of the submetacentric NOR-bearing pair and the B chromosome was entirely heterochromatic. FISH using an 18S rDNA probe confirmed the results obtained with AgNO(3) staining, and an additional signal was also present on the B chromosomes. 5S rDNA sequences mapped only to the largest acrocentric pair. This is the first description of supernumerary B chromosomes in Serrasalminae, and this karyotype characterization may be useful in further studies about chromosome evolution in this fish group.

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We report here the discovery of a new species of frog associated to the open areas of the highlands of the Parque Nacional da Serra dos Orgaos. The new species, Cycloramphus organensis is characterized by a unique skin texture, medium size ( maximum male and female SVL 26.4 mm and 33.3 mm respectively), dorsal surfaces uniformly brick red colored, uniformly areolate skin on dorsum, pupil horizontal, iris with a menisc on upper margin; no fleshy tubercles on eyelid, tympanic annulus concealed beneath skin, macroglands not visible externally, fingers and toes without fringes and webs; supernumerary palmar and plantar tubercles absent, nuptial spines absent. Despite the presence of an iris menisc, a character shared by frogs of both genera Cycloramphus and Zachaenus Cope, the combination of morphological characters is so unique that the allocation of the species to any of these genera remains ambiguous. Consequently, we used additional molecular-based phylogenetic analyses to ascertain the position of the new taxon. The new species proved to be embedded within the genus Cycloramphus.