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2.
J Laryngol Otol ; 131(6): 529-533, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28316288

RESUMO

OBJECTIVE: Conchal cartilage is frequently used in rhinoplasty, but donor site morbidity data are seldom reported. This study aimed to investigate the complications of conchal cartilage harvesting in rhinoplasty. METHODS: A retrospective chart review of 372 patients who underwent conchal cartilage harvesting for rhinoplasty was conducted. Data regarding patient demographics, types of nasal deformities, graft usage and complications were analysed. RESULTS: A total of 372 patients who underwent conchal cartilage harvesting for rhinoplasty were enrolled. The harvested conchal cartilage tissues were used in a variety of applications: tip graft, dorsal graft, septal reinforcement and correction of nostril asymmetry. Nine cases (2.4 per cent) with donor site morbidities were identified, including four cases (1.1 per cent) with keloids and five cases (1.3 per cent) with haematomas. CONCLUSION: Conchal cartilage harvesting is a safe and useful technique for rhinoplasty, with a low complication rate. However, patients should be informed about the possibility of donor site morbidities such as keloids and haematomas.


Assuntos
Complicações Pós-Operatórias/etiologia , Rinoplastia , Coleta de Tecidos e Órgãos/efeitos adversos , Sítio Doador de Transplante , Conchas Nasais/cirurgia , Adolescente , Adulto , Idoso , Feminino , Hematoma/etiologia , Humanos , Queloide/etiologia , Masculino , Pessoa de Meia-Idade , Doenças Nasais/etiologia , Estudos Retrospectivos , Resultado do Tratamento , Conchas Nasais/transplante , Adulto Jovem
3.
Lett Appl Microbiol ; 53(4): 445-51, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-21801185

RESUMO

AIMS: The purpose of this study was to develop a general method for the facile development of a new DNA biosensor which utilizes streptavidin-displayed spores as a molecular machinery. METHODS AND RESULTS: Fluorescence spectroscopy was used as a monitoring tool for the streptavidin displayed on the surface of Bacillus thuringiensis spores and as a diagnosis method for DNA detection. As a proof-of-concept, four pathogenic bacteria including Pseudomonas aeruginosa, Acinetobacter baumannii, Escherichia coli and Klebsiella pneumonia were used for the detection of pathogenic species. In addition, a set of mutant variants of Wilson's disease were also used for the detection of single nucleotide polymorphism (SNP) in this system. CONCLUSIONS: This strategy, utilizing streptavidin-displayed spores, is capable of capturing DNA targets for the detection of pathogenic bacteria and for mutation analysis in Wilson's disease. SIGNIFICANCE AND IMPACT OF THE STUDY: This approach could be useful as a simple platform for developing sensitive spore-based biosensors for any desired DNA targets in diagnostic applications.


Assuntos
Bactérias/isolamento & purificação , Técnicas Biossensoriais/métodos , DNA Bacteriano/análise , Acinetobacter baumannii/genética , Bacillus thuringiensis/genética , Bacillus thuringiensis/isolamento & purificação , Escherichia coli/genética , Escherichia coli/isolamento & purificação , Degeneração Hepatolenticular/genética , Humanos , Klebsiella pneumoniae/genética , Klebsiella pneumoniae/isolamento & purificação , Polimorfismo de Nucleotídeo Único , Pseudomonas aeruginosa/genética , Pseudomonas aeruginosa/isolamento & purificação , Espectrometria de Fluorescência , Esporos Bacterianos/genética , Estreptavidina/genética
4.
Parasitol Res ; 98(3): 200-6, 2006 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-16328369

RESUMO

Hymenolepis diminuta mitochondria catalyze nonenergy-linked and energy-linked NADH-->NADP(+) transhydrogenations, with the latter driven by electron-transport dependent NADH oxidation (electron transport-driven, ETD) or ATP hydrolysis (ATP-driven, ATPD). Using submitochondrial particles, NADH-->NADP(+) transhydrogenations were characterized further. ETD and ATPD reactions were enhanced by bovine serum albumin (BSA) and were inhibited by N,N'-dicyclohexylcarbodiimide (DCCD), carbonyl cyanide 3-chlorophenylhydrazone (CCCP), carbonyl cyanide 4-(trifluoromethoxy) phenylhydrazone (FCCP), and niclosamide. The nonenergy-linked reaction was unaffected by these additives. Except for DCCD inhibition of the ATPD reaction, BSA mitigated inhibitor effects on energy-linked activities. BSA enhanced NADH oxidase (but not ATPase) activity. Although DCCD inhibited NADH oxidase and ATPase, BSA only lessened oxidase inhibition. With protonophores, an increase in NADH oxidase (but not ATPase) activity was suggested. Oxidase inhibition by rotenone was unaffected by BSA. The ATP-hydrolyzed/NADPH-formed for the ATPD reaction was almost unity. A model for H. diminuta energy-linked transhydrogenation is presented.


Assuntos
Hymenolepis diminuta/metabolismo , Membranas Mitocondriais/enzimologia , NADP Trans-Hidrogenases/metabolismo , NADP/metabolismo , NAD/metabolismo , Animais , Catálise , Metabolismo Energético , Feminino , Concentração de Íons de Hidrogênio , Masculino , Ratos
5.
Phys Rev Lett ; 95(16): 167201, 2005 Oct 14.
Artigo em Inglês | MEDLINE | ID: mdl-16241836

RESUMO

We have investigated azimuthal spin-wave modes in magnetic vortex structures using time-resolved Kerr microscopy. Spatially resolved phase and amplitude spectra of ferromagnetic disks with diameters from 5 microm down to 500 nm reveal that the lowest order azimuthal spin-wave mode splits into a doublet as the disk size decreases. We demonstrate that the splitting is due to the coupling between spin waves and the gyrotropic motion of the vortex core.

6.
Lett Appl Microbiol ; 35(3): 195-202, 2002.
Artigo em Inglês | MEDLINE | ID: mdl-12180940

RESUMO

AIMS: From a survey of submerged culture of edible mushrooms, a high pigment-producing fungus Paecilomyces sinclairii was selected and its optimal culture conditions investigated. METHODS AND RESULTS: The optimal culture conditions for pigment production were as follows: inoculum age, 3 d; temperature, 25 degrees C; initial pH, 6.0; carbon source, 1.5% (w/v) soluble starch; nitrogen source, 1.5% (w/v) meat peptone. Although addition of 10 mmol l(-1) CaCl2 to the culture medium slightly increased pigment production, most of the bio-elements examined had no notable or detrimental effect on pigment production. CONCLUSIONS: Under the optimal conditions obtained in the flask culture tested, a ninefold increase in pigment production (4.4 g l(-1)) was achieved using a 5(-l) batch fermenter. Paecilomyces sinclairii secreted water-soluble red pigment into the culture medium. The pigment colour was strongly dependent on the pH of the solution: red at pH 3-4, violet at pH 5-9 and pink at pH 10-12. SIGNIFICANCE AND IMPACT OF THE STUDY: The high concentration of pigment (4.4 g l(-1)) produced by P. sinclairii demonstrates the possibility of commercial production of pigment by this strain, considering its relatively high production yield and light stability.


Assuntos
Paecilomyces/crescimento & desenvolvimento , Pigmentos Biológicos/metabolismo , Reatores Biológicos , Biotecnologia , Carbono/metabolismo , Meios de Cultura , Fermentação , Concentração de Íons de Hidrogênio , Micélio/crescimento & desenvolvimento , Nitrogênio/metabolismo , Paecilomyces/metabolismo , Pigmentos Biológicos/química , Temperatura
7.
Lett Appl Microbiol ; 34(6): 433-8, 2002.
Artigo em Inglês | MEDLINE | ID: mdl-12028425

RESUMO

AIMS: The influence of agitation intensity on Cordyceps militaris morphology and exo-biopolymer production was investigated in a 5 litre stirred vessel using a six-blade Rushton turbine impeller. METHODS AND RESULTS: The mycelial morphology of C. militaris was characterized by means of image analysis, which included mean diameter, circularity, roughness and compactness of the pellets. The morphological parameters of the pellets grown under different stirring conditions were significantly different, which correspondingly altered exo-biopolymer production yields. CONCLUSIONS: The compactness of the pellets was found to be the most critical parameter affecting exo-biopolymer biosynthesis; more compact pellets were formed at 150 rev min(-1) with maximum exo-biopolymer production (15 g l(-1)). SIGNIFICANCE AND IMPACT OF THE STUDY: The results of this study suggest that morphological change of pellets is a good indicator for identifying the cell activity for exo-biopolymer production.


Assuntos
Biopolímeros/biossíntese , Reatores Biológicos , Técnicas de Cultura de Células/métodos , Fermentação , Hypocreales/citologia , Hypocreales/metabolismo
8.
Lett Appl Microbiol ; 34(1): 56-61, 2002.
Artigo em Inglês | MEDLINE | ID: mdl-11849494

RESUMO

AIMS: The effect of synthetic media on the submerged mycelial growth and exo-biopolymer production in various edible mushrooms was investigated in shake flask culture. METHODS AND RESULTS: Among 19 mushrooms examined, the relatively high yield in mycelial biomass and exo-biopolymer production was achieved in potato malt peptone (PMP) medium. In particular, Ganoderma lucidum NO. 1 and Phellinus linteus KCTC 6190 showed favourable growth in PMP medium with exo-biopolymer concentration of 1170 and 1520 mg l(-1), respectively. CONCLUSIONS: Enhanced exo-biopolymer production was achieved from Ganoderma lucidum NO. 1 and Phellinus linteus KCTC 6190 in a 5L batch fermentor, indicating approximately 5000 and 2410 mg l(-1), respectively. SIGNIFICANCE AND IMPACT OF THE STUDY: The exo-biopolymer production and mycelial growth from various mushrooms were found to be strongly controlled by different complex media.


Assuntos
Agaricales/metabolismo , Biopolímeros/biossíntese , Micélio/crescimento & desenvolvimento , Biomassa , Meios de Cultura , Fermentação
9.
Phys Rev Lett ; 89(27): 277201, 2002 Dec 30.
Artigo em Inglês | MEDLINE | ID: mdl-12513237

RESUMO

We have observed localized spin-wave modes in individual thin-film ferromagnetic wires using time-resolved Kerr microscopy as a micron-scale spectroscopic probe. The localization is due to the internal field profile present when an external field is applied in the plane of the film and perpendicular to the long axis of the wire. Spatially resolved spectra demonstrate the existence of distinct modes at the edges of a rectangular wire. Spectral images clearly show the crossover of the two edge modes into a single mode in low applied fields, in agreement with the results of micromagnetic simulations.

10.
Lett Appl Microbiol ; 33(3): 183-7, 2001 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-11555200

RESUMO

AIMS: The optimal culture conditions for endoinulinase production using chicory roots were studied in shake-flask culture. METHODS AND RESULTS: Much higher enzyme production was achieved with Xanthomonas sp. (15 U ml(-1)) than with Pseudomonas sp. (3 U ml(-1)). Optimized culture conditions of Xanthomonas sp. for endoinulinase production in flask culture were: chicory powder, 5 g l(-1); temperature, 37 degrees C; pH, 7.0; agitation speed, 100 rev min(-1). CONCLUSION: Maximum bacterial growth and enzyme production were 6.2 g l(-1) and 20 U ml(-1) under optimal conditions, respectively. SIGNIFICANCE AND IMPACT OF THE STUDY: Chicory roots could be used as a fermentation substrate for the production of enndoinulinase.


Assuntos
Cichorium intybus/metabolismo , Glicosídeo Hidrolases/biossíntese , Raízes de Plantas/metabolismo , Pseudomonas/enzimologia , Xanthomonas/enzimologia , Meios de Cultura , Fermentação , Concentração de Íons de Hidrogênio , Inulina/metabolismo , Pseudomonas/crescimento & desenvolvimento , Temperatura , Xanthomonas/crescimento & desenvolvimento
11.
Appl Microbiol Biotechnol ; 56(1-2): 88-92, 2001 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-11499951

RESUMO

The influence of Paecilomyces japonica pellet morphology on fermentation broth rheology and exobiopolymer production was investigated in a 5-1 jar fermenter. Rapid formation of pellets was observed after the first day of fermentation; and these slowly increased in size and roughness. This, together with the increase in biomass concentration, altered the transport characteristics and broth rheology towards a pseudoplastic nature which, in turn, influenced cell growth and exo-biopolymer production. At mild agitation, high aeration and optimum substrate concentration, pellets were the most predominant morphological form, compared with free mycelia. The broth rheology showed pseudoplastic behavior; and the fungal morphology was closely related to the rheological properties.


Assuntos
Biopolímeros/metabolismo , Fermentação , Paecilomyces/citologia , Reatores Biológicos , Divisão Celular , Paecilomyces/metabolismo , Viscosidade
12.
Lett Appl Microbiol ; 33(1): 76-81, 2001 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-11442820

RESUMO

AIMS: The objective of the present study was to determine the optimal culture conditions for exo-biopolymer production by Cordyceps militaris in shake flask culture. METHODS AND RESULTS: The optimal temperature and initial pH for both mycelial growth and exo-biopolymer production by Cordyceps militaris in shake flask culture were found to be 20 degrees C and 6.0, respectively. Sucrose (40 g x l(-1)) and corn steep powder (10 g x l(-1)) were the most suitable carbon and nitrogen source for both mycelial growth and exo-biopolymer production. CONCLUSION: Under optimal culture conditions, the maximum exo-biopolymer concentration in a 5-l jar fermenter indicated 10.3 g x l(-1), which was approximately three times higher than that in shake flask culture. SIGNIFICANCE AND IMPACT OF THE STUDY: This process can have a significant impact on the industrial scale when sucrose and corn steep powder were used as carbon and nitrogen source.


Assuntos
Hypocreales/crescimento & desenvolvimento , Hypocreales/metabolismo , Polissacarídeos/biossíntese , Carbono/metabolismo , Meios de Cultura , Fermentação , Compostos Ferrosos/farmacologia , Concentração de Íons de Hidrogênio , Sulfato de Magnésio/farmacologia , Nitrogênio/metabolismo , Fosfatos/farmacologia , Compostos de Potássio/farmacologia , Sacarose/metabolismo , Temperatura
13.
Prenat Diagn ; 21(5): 351-3, 2001 May.
Artigo em Inglês | MEDLINE | ID: mdl-11360274

RESUMO

We report the prenatal diagnosis of a fetus with tetrasomy 5p mosaicism resulting from a supernumerary isochromosome for the short arm of chromosome 5. The pregnancy was terminated and fetal autopsy revealed minor facial abnormalities (long philtrum, up-slanting palpebral fissures and a broad nasal bridge). Cultures were established from fetal skin, kidney, and pancreas for cytogenetic analysis; the i(5p) was observed only in the skin fibroblasts. To our knowledge, this is the fourth report of mosaic tetrasomy 5p and the first report of prenatal diagnosis of this abnormality.


Assuntos
Anormalidades Múltiplas/diagnóstico , Aberrações Cromossômicas/diagnóstico , Cromossomos Humanos Par 5 , Doenças Fetais/diagnóstico , Mosaicismo/diagnóstico , Anormalidades Múltiplas/genética , Adulto , Amniocentese , Células Cultivadas , Bandeamento Cromossômico , Transtornos Cromossômicos , Evolução Fatal , Feminino , Doenças Fetais/genética , Idade Gestacional , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Mosaicismo/genética , Gravidez
14.
Gene ; 269(1-2): 205-16, 2001 May 16.
Artigo em Inglês | MEDLINE | ID: mdl-11376952

RESUMO

Acidic endonuclease activity is present in all cells in the body and much of this can be attributed to the previously cloned and ubiquitously expressed deoxyribonuclease II (DNase II). Database analysis revealed the existence of expressed sequence tags and genomic segments coding for a protein with considerable homology to DNase II. This report describes the cloning of this cDNA, which we term deoxyribonuclease IIbeta (DNase IIbeta) and comparison of its expression to that of the originally cloned DNase II (now termed DNase IIalpha). The cDNA encodes a 357 amino acid protein. This protein exhibits extensive homology to DNase IIalpha including an amino-terminal signal peptide and a conserved active site, and has many of the regions of identity that are conserved in homologs in other mammals as well as C. elegans and Drosophila. The gene encoding DNase IIbeta has identical splice sites to DNase IIalpha. Human DNase IIbeta is highly expressed in the salivary gland, and at low levels in trachea, lung, prostate, lymph node, and testis, whereas DNase IIalpha is ubiquitously expressed in all tissues. The expression pattern of human DNase IIbeta suggests that it may function primarily as a secreted enzyme. Human saliva was found to contain DNase IIalpha, but after immunodepletion, considerable acid-active endonuclease remained which we presume is DNase IIbeta. We have localized the gene for human DNase IIbeta to chromosome 1p22.3 adjacent (and in opposing orientation) to the human uricase pseudogene. Interestingly, murine DNase IIbeta is highly expressed in the liver. Uricase is also highly expressed in mouse but not human liver and this may explain the difference in expression patterns between human and mouse DNase IIbeta.


Assuntos
Endodesoxirribonucleases/genética , Sequência de Aminoácidos , Animais , Sequência de Bases , Mapeamento Cromossômico , Clonagem Molecular , Expressão Gênica , Humanos , Camundongos , Dados de Sequência Molecular , Células U937
15.
Enzyme Microb Technol ; 28(4-5): 439-445, 2001 Mar 08.
Artigo em Inglês | MEDLINE | ID: mdl-11240203

RESUMO

Inulooligosaccharides (IOS) production from chicory extract was carried out using endoinulinase obtained from a new isolate, Xanthomonas oryzae No. 5. The IOS production from chicory extract was maximum when 50 g/liter of chicory extract was utilized as the substrate. As the substrate concentration increased, the IOS production accordingly decreased probably due to substrate inhibition. For a comparative study, enzyme reactions were carried out from pure inulin as substrate. Though total IOS contents indicated higher IOS yield with pure inulin compared to that of chicory extract, the distribution of inulooligosaccharide components between pure inulin and chicory extract was not significantly different; i.e. DP5 and higher oligosaccharides are major products in case of both chicory extract and pure inulin as substrate. A considerable amount of oligofructose (about 30%, w/w), which were originally present in chicory extract, resulted in the change of the enzyme kinetics. A reaction pH 7 was found to be most suitable for enzyme reaction. The initial reaction rates increased with increasing enzyme dosage, although the relative composition of the IOS produced remain unchanged.

16.
Am J Surg Pathol ; 25(3): 285-96, 2001 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-11224598

RESUMO

Hepatosplenic gammadelta T-cell lymphoma is a distinct entity, characterized by occurrence in young adult males with hepatosplenomegaly, B-symptoms, peripheral blood cytopenias, and no lymphadenopathy; lymphomatous infiltrates in the splenic red pulp, hepatic sinusoids, and bone marrow sinuses; T-cell receptor (TCR) gammadelta chains and a cytotoxic T-cell phenotype; isochromosome 7q; and an aggressive clinical course. In comparison, this study describes the clinicopathologic features of 14 hepatosplenic T-cell lymphomas expressing TCR alphabeta chains. They occurred in 11 women and 3 men with a median age of 36 years. Clinical presentation was similar to that described previously for hepatosplenic gammadelta T-cell lymphomas, except for the female preponderance and age distribution (5 patients younger than 13 years of age and 5 patients older than 50 years of age). Disease distribution was primarily in the splenic red pulp and hepatic sinusoids, although liver infiltrates were largely periportal in four cases. Bone marrow involvement, observed in eight patients, was usually interstitial and/or within the sinuses. Lymph nodes were involved in five patients, although lymphadenopathy was demonstrable in only two. Ten cases were composed of intermediate-size tumor cells with round/oval nuclei, slightly dispersed chromatin, inconspicuous nucleoli, and scant to moderate amounts of cytoplasm. Four lymphomas contained primarily large cells with irregular nuclei, dispersed chromatin, discernible nucleoli, and moderate to abundant cytoplasm. Tumor cells in all 14 lymphomas were cytotoxic alphabeta T-cells; 13 co-expressed natural killer cell-associated antigens and showed T-cell clonality. Three lymphomas were associated with Epstein-Barr virus. Two of four cases had an isochromosome 7q. Eleven patients are dead, eight within a year of diagnosis, and two patients have maintained complete remissions after combination chemotherapy. These data show that hepatosplenic T-cell lymphomas include an alphabeta-subtype. This group, along with the previously recognized gammadelta group, should be recognized as phenotypically heterogeneous subtypes of the same disease entity.


Assuntos
Neoplasias Hepáticas/patologia , Linfoma de Células T/patologia , Receptores de Antígenos de Linfócitos T alfa-beta/metabolismo , Receptores de Antígenos de Linfócitos T gama-delta/metabolismo , Neoplasias Esplênicas/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Medula Óssea/patologia , Criança , Pré-Escolar , DNA de Neoplasias/análise , Feminino , Rearranjo Gênico da Cadeia gama dos Receptores de Antígenos dos Linfócitos T/genética , Humanos , Lactente , Recém-Nascido , Cariotipagem , Neoplasias Hepáticas/genética , Neoplasias Hepáticas/metabolismo , Linfonodos/patologia , Linfoma de Células T/classificação , Linfoma de Células T/genética , Linfoma de Células T/metabolismo , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Receptores de Antígenos de Linfócitos T alfa-beta/genética , Receptores de Antígenos de Linfócitos T gama-delta/genética , Neoplasias Esplênicas/genética , Neoplasias Esplênicas/metabolismo
17.
J Biosci Bioeng ; 91(5): 522-4, 2001.
Artigo em Inglês | MEDLINE | ID: mdl-16233033

RESUMO

A significant difference was observed in the production pattern of exo-biopolymer and broth rheology during submerged culture of Paecilomyces japonica when two efficient carbon sources (maltose and sucrose) were employed. The maximum concentration of biopolymers in maltose medium (30 g/l) was higher than that in sucrose medium (25 g/l), whereas maximum mycelial concentration displayed an inverse result (i.e., 25 g/l in sucrose medium and 20 g/l in maltose medium). The broth rheology and morphology of P. japonica were also markedly different between the two culture media.

18.
Cancer Genet Cytogenet ; 121(2): 198-205, 2000 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-11063808

RESUMO

We report amplification of the MLL gene region (11q23-->11qter) in a 72-year-old woman with myelodysplastic syndrome progressing to acute myelomonocytic leukemia and in a 51-year-old man with a history of hairy cell leukemia and secondary myelodysplasia progressing to acute myelogenous leukemia. The amplicons containing MLL were shown by molecular cytogenetics to extend from chromosomal region 11q23 to the distal long arm of chromosome 11 and to be present in the first patient in five copies on a large ring chromosome and present in the second patient also in five copies on two derived chromosomes. Other karyotypic findings in the first patient included del(5q), +8, and der(21)t(17;21), resulting in the loss of a copy of 17p, whereas deletion 7q was observed in the second patient. Southern-blot analysis for the second patient was consistent with MLL amplification but did not demonstrate rearrangement of the germ-line MLL band. Amplification of MLL and the 11q23 region has been documented in only a few cases and appears to be yet another mechanism by which MLL contributes to the leukemia phenotype.


Assuntos
Proteínas de Ligação a DNA/genética , Amplificação de Genes , Leucemia Mieloide/genética , Proto-Oncogenes , Fatores de Transcrição , Doença Aguda , Idoso , Southern Blotting , Feminino , Histona-Lisina N-Metiltransferase , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Masculino , Pessoa de Meia-Idade , Proteína de Leucina Linfoide-Mieloide
20.
Arch Pathol Lab Med ; 123(5): 381-5, 1999 May.
Artigo em Inglês | MEDLINE | ID: mdl-10235494

RESUMO

OBJECTIVE: To assemble and interpret karyotype data provided as part of the College of American Pathologists/American College of Medical Genetics Cytogenetics Proficiency Testing Program. DATA SOURCES, EXTRACTION, AND SYNTHESIS: The Cytogenetics Resource Committee requested data on all cells analyzed in a 1994 whole-blood specimen challenge. In that study, 287 participating laboratories analyzed a total of 14297 cells derived from a sample drawn from an adult donor with Turner syndrome. This individual had previously been found to have mosaicism, including cell lines with X structural anomalies along with monosomy X, making this an excellent challenge for a multicenter cytogenetic survey. RESULTS AND CONCLUSIONS: Analysis of the data from this extensive study revealed mosaicism of up to 10 different sex chromosome complements involving the X chromosome with and without a small ring X or a derivative X chromosome. In the routine cytogenetic analysis performed by the participating laboratories, cell lines observed, in decreasing order of prevalence, included 45,X (n = 8357 cells), 46,X,r(X) (n = 3597), 46,X,der(X)t(X;X) (n = 2237), 46,XX (n = 93), 47,X,r(X),r(X) (n = 5), 47,X,der (X)t(X;X),der(X)t(X;X) (n = 3), 47,XX,r(X) (n = 2), and one observation each of 47,XX,der(X)t(X;X), 47,X,der(X)t (X;X),r(X), and 47,XXX. Our molecular cytogenetic data, as well as detailed analysis of G-banded chromosomes, suggest the nomenclature for these 2 abnormal X chromosomes as r(X)(p11.3q21.3) and der(X)t(X;X)(p11.3;q21.3), and we discuss models for the concomitant formation of these 2 entities. Both the degree of analysis and the extensive mosaicism that was discovered in this study are exceptional, and similar reported cases as well as possible mechanisms for the observed X chromosome instability are reviewed.


Assuntos
Mosaicismo/genética , Síndrome de Turner/genética , Síndrome de Turner/patologia , Cromossomo X , Adulto , Feminino , Humanos , Hibridização in Situ Fluorescente , Cariotipagem
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