Inestabilidad Cromosómica en Neurofibromatosis
Resumen
Se realizó un estudio de aberraciones cromosómica (quiebras, gaps, dicéntricos, fragmentos, anillos), de tres pacientes con Neurofibromatosis y cinco controles, mediante el cultivo temporario de linfocitos y utilizando Bleomicina. El estudió citogenético, revela una inestabilidad cromosómica en los pacientes neurofibromatosoS p o r un incremento notable de gaps, dicéntricos y fragmentos en comparación Con el grupo control Nosotros comprobamos que la Neurofibromatosisés üñ síndrome de inestabilidad cromosómica de acuerdo con un reporte previo de Mohamed Itafez y cois. en 1985.
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1. Carry* John; Bonnie J . Batty; Johnson, John Et aí. “The Genetics Aspccts of Neurofibromatosís”. En: Annals New Yorks Acádemy of Sciences. 486, 45 * 46,1986.
2. Hafcz, Mohamed; Layla, Sharaf; M. Samya Abd El—Nabi and Camal El Wehedy. “Evidente of Chromosomal inoiability in Neurofíbromatosis”. Cáncer 52: 334-2436, 1985.
3. Barker, 1).; Wright E. and Nguyen K. Et of. “Gene fór von Reoking hausen Neurofibromatosis” is in thc Pericentromeric Región bf Cliromosorne 17”. Science 235: 1100 -1102 ,1987.
4. Akensidc, M. “Obsérvátions on cancera” MedTrans 1768,1 - 64.
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6. Róbert, J.M.; Trouillas, P. and Mártini, L. “La Moladie de Recklinghaüsen Une estude Genetique et cíirtico-Patologiquc á propos dé 67 geiiealogies’Y Journal de Cenetique Huinaine 23: 231 -233 ,1975 (Suppl.)
7. Von Recklinghaüsen, F.D. “Uber die rnultiplen fibrome der .Háüt Und ihere. Bc/icllun/.u den rnultiplen ncuronicrH”. Berlín, 1882.
8. Thomson, A. “On Neuromaand Neurófibromatosis’N Editnburg 7’urn Bull and SpcarS, 1990.
9. Seashore, Margretta. “Neurofibromatosis: Clinical and Genetics features”. Connecticut Medicine. 51 (4): 212-213,1987.
10. Rock, A, Test Book o f Dermatology. London, Ed. Blackwell Scientifie Publications, 107—109,1979.
11. Crowe, F.W.; Schiill, »W.J.; and Neel J.V. A Clinical Phatological and Genetics Study o f Múltiple Neurbfibrotnatbsis. Illinois, Chas Thoinás Springfield Illinois, 1956.
12. The Laneet (Editorial). “Genetic Markers for Neurofibromatosis” The Laneet 719-720, 1988.
13. Sergeyev, A.S. “On the mutation rate of Neurofibromalosis”. Human Genetics 28: 129-138, 1979.
14. Sergeyev, A.S. “On the mutation rate of Neurofibromatosis”. Human Genetics 28: 129-138, 1975.
15. Rictíardi, Vicente and Derrich,'\V. Eider. “Múltiple Citogenetic Aberrations in Neurofibrosarcomas complicating Neurofibromatqsis,, Cáncer Genetics and Cytogenetics 23: 199-209,1986.
16. Riccardi, Vicent. “Medical Progresé von Recklinghausen neurofibromatosis”. New England Journal Medical 305: 1617-1631, 1981.
17. Ricardi, Vicent. “Neurofibromatosis: Clinical Heterogeneity”. Current Probletns in Cáncer 7: I - 35, 1982.
18. Hiison, S.M.; Meredith, A.L.;Sarfara/á M, ¿5f <*/. “Linkage analysis of pcriphcral neurofibromatósis (Von Recklinghaüsen disease) and chromosome 19 markers linked to rnyotonic distrophy”. Journal o f Medical G$rietics 23: 55-57, 1986.
19. Mitchcll, Joyce;;Wray, Jane and Karen, Michalski. “Bricf Clinical Rcport: Neurofibromatosis and Fragilc -x syhdrome in the Same Patient”. American Journal o f Medical Genetics 22: 571-575, 1985.
20. Dunn, David. “Neurofibromatosis in Chilhóod” Current Problema in Pedia tries. 17 (8): 451- 496,1987.
21. Bader, Judith. “Neurofibromatosis and Cáncer” Annals New York Academy o f Sciences 486: 57 - 65,1986.
22. Ilafez, Mohamed; Samya Abd El—nabi; Gamel El—Wehedy; and Yossef Al—Tonbary. “Enhaced responce to the induction of Sister Chromatid Exchange by Gamma Radiation in Neurofibromatosis” Cáncer 57: 1937 - 1940, 1986.
23. Ducatman, B.S. and B.W. Scheilhauer. “Postirradiation Neurofibrosareoma”. Cáncer 51: 1028-103'’., 1983.
24. Knudson, J r Alfred. “A Geneticisl.s View of Neurofibromatosis” Advanccn ín Nettralogy 29: 237-242, 1981.
25. Diehí, S ti.; Boehnka, M.; Collins, F.S. Et al. “Lirikage anaíysis of per ipheral N cu r o f i bro ni atosis U> DNA markers on Chromosome 8”. Journal Medical Genetic# 24 (9): 532-534, 1987.
26. Palmer, C.G.; Provisor, A.J.; Woaver, D.D. etal. “Juvenilc Ghrortic granulocytic leukemia in patieritivith trisomy 8, Neurofibromatosis and prolongued Epstein— l.tarr virus infeetion”. J oürnal í’ediatrics 102: 88-892, 1983.
27, Duncan, Alessandra; Michael, Partington and Diishan Soudek. “Neurofibromatosis in a man with a Ring 22 in-situ Hibridization Studies”. Cáncer Genetic$ and Citogenetics 25: 169- 174,1987.
28, Martelli, Lucia. “Estudio Clínico c Cítogenéticó de Pacientes con Síndrome de Gorlin”. Faculdade de Medicina de Hibc.irao Preto USP 1986, pp. 16. Tese de Mostrado.
29. Moorhead, P.S.; Nowell, P.C.; Mellman, W,,|. et al. “Chromosome preparations of leucoeytos eulttlred frórii human períphe ral blood”. Experimental Cell Research 20: 613-616,1960.
30. Ferrari, Iríá, '‘Estudio de Alteracoes cromosoeromosornicas em Pacientes portadores de anomalías físicas múltiples e retardo mental”. FacuIdade de Medicina de Ribeirao Preto USP, 1968, Tesé de Dontorado.
31. Chicago (,'onfcrence. “Standardization in Human cytogehetíCfi” fíirih Defects. Originál Article Series New York 2 (20 ,1966 .
32. París Conferenee. “Standard ization in human eytogenétics” Birth Defects. Original Ardele * Seríes New York 8,1972 .
33. Savage, J.R.K, “Clasification and relatiorishipá of induced ehromosornal structural changos”. Journal o f Medical Genetics 12: 103-122,1975.
34. ISCN. “An International System for Human Cytogenetic Nomenclature”. Cytogenetic cell Genetics, 66 <• 69,1985.
35. lijima, K.; Morimoto, K.; Koizumi, A.; et al. “Bleomycin-induced ehromosornal aberra tions and sister chromatid exchanges in Down lymplioeyte cultures”. Human Genetics 66: 57-61, 1984.
36. Gebhart, K.; Schinzel, M.; and Ruprecht, K.W. “Citogenetic Studies using various clástogens ín two patients with Werner syndromé and control individuáis”; Human Genetics 70: 324-327» 1985.
37. Bcrry, D.E.; Chang, L. IL; and llocht, S.M. “DNA damage arid growth irihibition in eultured human célls by bleomycin congeners”. liiochemistry 24: 3207-3214,1985.
38. Fisher, L.M.; Juroda, R.; and Sakái, T.T. “Interaction of Belornycin A2 with DNA”, Biochemistry 24: 3199- 3208,1985,
2. Hafcz, Mohamed; Layla, Sharaf; M. Samya Abd El—Nabi and Camal El Wehedy. “Evidente of Chromosomal inoiability in Neurofíbromatosis”. Cáncer 52: 334-2436, 1985.
3. Barker, 1).; Wright E. and Nguyen K. Et of. “Gene fór von Reoking hausen Neurofibromatosis” is in thc Pericentromeric Región bf Cliromosorne 17”. Science 235: 1100 -1102 ,1987.
4. Akensidc, M. “Obsérvátions on cancera” MedTrans 1768,1 - 64.
5. Ober, W.B. “Mark Akenside M D (1721-1770). , physician and philosofhic poct”. New York State Journal Medical 60: 3166, 1968.
6. Róbert, J.M.; Trouillas, P. and Mártini, L. “La Moladie de Recklinghaüsen Une estude Genetique et cíirtico-Patologiquc á propos dé 67 geiiealogies’Y Journal de Cenetique Huinaine 23: 231 -233 ,1975 (Suppl.)
7. Von Recklinghaüsen, F.D. “Uber die rnultiplen fibrome der .Háüt Und ihere. Bc/icllun/.u den rnultiplen ncuronicrH”. Berlín, 1882.
8. Thomson, A. “On Neuromaand Neurófibromatosis’N Editnburg 7’urn Bull and SpcarS, 1990.
9. Seashore, Margretta. “Neurofibromatosis: Clinical and Genetics features”. Connecticut Medicine. 51 (4): 212-213,1987.
10. Rock, A, Test Book o f Dermatology. London, Ed. Blackwell Scientifie Publications, 107—109,1979.
11. Crowe, F.W.; Schiill, »W.J.; and Neel J.V. A Clinical Phatological and Genetics Study o f Múltiple Neurbfibrotnatbsis. Illinois, Chas Thoinás Springfield Illinois, 1956.
12. The Laneet (Editorial). “Genetic Markers for Neurofibromatosis” The Laneet 719-720, 1988.
13. Sergeyev, A.S. “On the mutation rate of Neurofibromalosis”. Human Genetics 28: 129-138, 1979.
14. Sergeyev, A.S. “On the mutation rate of Neurofibromatosis”. Human Genetics 28: 129-138, 1975.
15. Rictíardi, Vicente and Derrich,'\V. Eider. “Múltiple Citogenetic Aberrations in Neurofibrosarcomas complicating Neurofibromatqsis,, Cáncer Genetics and Cytogenetics 23: 199-209,1986.
16. Riccardi, Vicent. “Medical Progresé von Recklinghausen neurofibromatosis”. New England Journal Medical 305: 1617-1631, 1981.
17. Ricardi, Vicent. “Neurofibromatosis: Clinical Heterogeneity”. Current Probletns in Cáncer 7: I - 35, 1982.
18. Hiison, S.M.; Meredith, A.L.;Sarfara/á M, ¿5f <*/. “Linkage analysis of pcriphcral neurofibromatósis (Von Recklinghaüsen disease) and chromosome 19 markers linked to rnyotonic distrophy”. Journal o f Medical G$rietics 23: 55-57, 1986.
19. Mitchcll, Joyce;;Wray, Jane and Karen, Michalski. “Bricf Clinical Rcport: Neurofibromatosis and Fragilc -x syhdrome in the Same Patient”. American Journal o f Medical Genetics 22: 571-575, 1985.
20. Dunn, David. “Neurofibromatosis in Chilhóod” Current Problema in Pedia tries. 17 (8): 451- 496,1987.
21. Bader, Judith. “Neurofibromatosis and Cáncer” Annals New York Academy o f Sciences 486: 57 - 65,1986.
22. Ilafez, Mohamed; Samya Abd El—nabi; Gamel El—Wehedy; and Yossef Al—Tonbary. “Enhaced responce to the induction of Sister Chromatid Exchange by Gamma Radiation in Neurofibromatosis” Cáncer 57: 1937 - 1940, 1986.
23. Ducatman, B.S. and B.W. Scheilhauer. “Postirradiation Neurofibrosareoma”. Cáncer 51: 1028-103'’., 1983.
24. Knudson, J r Alfred. “A Geneticisl.s View of Neurofibromatosis” Advanccn ín Nettralogy 29: 237-242, 1981.
25. Diehí, S ti.; Boehnka, M.; Collins, F.S. Et al. “Lirikage anaíysis of per ipheral N cu r o f i bro ni atosis U> DNA markers on Chromosome 8”. Journal Medical Genetic# 24 (9): 532-534, 1987.
26. Palmer, C.G.; Provisor, A.J.; Woaver, D.D. etal. “Juvenilc Ghrortic granulocytic leukemia in patieritivith trisomy 8, Neurofibromatosis and prolongued Epstein— l.tarr virus infeetion”. J oürnal í’ediatrics 102: 88-892, 1983.
27, Duncan, Alessandra; Michael, Partington and Diishan Soudek. “Neurofibromatosis in a man with a Ring 22 in-situ Hibridization Studies”. Cáncer Genetic$ and Citogenetics 25: 169- 174,1987.
28, Martelli, Lucia. “Estudio Clínico c Cítogenéticó de Pacientes con Síndrome de Gorlin”. Faculdade de Medicina de Hibc.irao Preto USP 1986, pp. 16. Tese de Mostrado.
29. Moorhead, P.S.; Nowell, P.C.; Mellman, W,,|. et al. “Chromosome preparations of leucoeytos eulttlred frórii human períphe ral blood”. Experimental Cell Research 20: 613-616,1960.
30. Ferrari, Iríá, '‘Estudio de Alteracoes cromosoeromosornicas em Pacientes portadores de anomalías físicas múltiples e retardo mental”. FacuIdade de Medicina de Ribeirao Preto USP, 1968, Tesé de Dontorado.
31. Chicago (,'onfcrence. “Standardization in Human cytogehetíCfi” fíirih Defects. Originál Article Series New York 2 (20 ,1966 .
32. París Conferenee. “Standard ization in human eytogenétics” Birth Defects. Original Ardele * Seríes New York 8,1972 .
33. Savage, J.R.K, “Clasification and relatiorishipá of induced ehromosornal structural changos”. Journal o f Medical Genetics 12: 103-122,1975.
34. ISCN. “An International System for Human Cytogenetic Nomenclature”. Cytogenetic cell Genetics, 66 <• 69,1985.
35. lijima, K.; Morimoto, K.; Koizumi, A.; et al. “Bleomycin-induced ehromosornal aberra tions and sister chromatid exchanges in Down lymplioeyte cultures”. Human Genetics 66: 57-61, 1984.
36. Gebhart, K.; Schinzel, M.; and Ruprecht, K.W. “Citogenetic Studies using various clástogens ín two patients with Werner syndromé and control individuáis”; Human Genetics 70: 324-327» 1985.
37. Bcrry, D.E.; Chang, L. IL; and llocht, S.M. “DNA damage arid growth irihibition in eultured human célls by bleomycin congeners”. liiochemistry 24: 3207-3214,1985.
38. Fisher, L.M.; Juroda, R.; and Sakái, T.T. “Interaction of Belornycin A2 with DNA”, Biochemistry 24: 3199- 3208,1985,
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Publicado
2017-06-16
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1.
López R, Félix C, Ruales J, Cantos G, López M, Quiroga P, Gómez ME, Martelli LR. Inestabilidad Cromosómica en Neurofibromatosis. Rev Fac Cien Med (Quito) [Internet]. 16 de junio de 2017 [citado 30 de abril de 2024];16(1-2):17-23. Disponible en: https://revistadigital.uce.edu.ec/index.php/CIENCIAS_MEDICAS/article/view/692
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