Chromosome 6q deletion: report of a new case and review of the literature

Detalhes bibliográficos
Autor(a) principal: Boy, Raquel
Data de Publicação: 1998
Outros Autores: Pimentel, Márcia Mattos Gonçalves, Hemerly, Ana Paula, Silva, Maria do Perpétuo Socorro, Barreiro, Ana Paula, Almeida, José Carlos Cabral de, Llerena Junior, Juan Clinton
Tipo de documento: Artigo
Idioma: por
Título da fonte: Repositório Institucional da FIOCRUZ (ARCA)
Texto Completo: https://www.arca.fiocruz.br/handle/icict/6323
Resumo: Os autores descrevem um novo caso de monossomia parcial do braço longo do cromossomo 6[46,XY,del(6)(q22 qter)]. A ocorrência de retardo psicomotor severo é esperada em funçäo do paciente apresentar um dos maiores segmentos deletados além da banda 6q25.
id CRUZ_9f818088e984e8e33a3bc899b147c634
oai_identifier_str oai:www.arca.fiocruz.br:icict/6323
network_acronym_str CRUZ
network_name_str Repositório Institucional da FIOCRUZ (ARCA)
repository_id_str 2135
spelling Boy, RaquelPimentel, Márcia Mattos GonçalvesHemerly, Ana PaulaSilva, Maria do Perpétuo SocorroBarreiro, Ana PaulaAlmeida, José Carlos Cabral deLlerena Junior, Juan Clinton2013-02-21T18:52:42Z2013-02-21T18:52:42Z1998BOY, Raquel et al. Chromosome 6q deletion: Report of a new case and review of the literature. Genet. Mol. Biol., Ribeirão Preto, v. 21, n. 1, mar. 1998.https://www.arca.fiocruz.br/handle/icict/632310.1590/S1415-47571998000100024Os autores descrevem um novo caso de monossomia parcial do braço longo do cromossomo 6[46,XY,del(6)(q22 qter)]. A ocorrência de retardo psicomotor severo é esperada em funçäo do paciente apresentar um dos maiores segmentos deletados além da banda 6q25.The authors report an additional case of partial monosomy of the long arm of chromosome 6 [46,XY,del (6)(q22 ® qter)]. Our patient has a large segment beyond 6q25 deleted, then severe psychomotor retardation is expected to occur.UERJUniversidade do Estado do Rio de Janeiro. Instituto de Biologia. Departamento de Biologia Celular e Genética. Serviço de Genética Humana. Rio de Janeiro, RJ, BrasilUniversidade do Estado do Rio de Janeiro. Instituto de Biologia. Departamento de Biologia Celular e Genética. Serviço de Genética Humana. Rio de Janeiro, RJ, BrasilUniversidade do Estado do Rio de Janeiro. Instituto de Biologia. Departamento de Biologia Celular e Genética. Serviço de Genética Humana. Rio de Janeiro, RJ, BrasilUniversidade do Estado do Rio de Janeiro. Instituto de Biologia. Departamento de Biologia Celular e Genética. Serviço de Genética Humana. Rio de Janeiro, RJ, BrasilUniversidade do Estado do Rio de Janeiro. Instituto de Biologia. Departamento de Biologia Celular e Genética. Serviço de Genética Humana. Rio de Janeiro, RJ, BrasilFundação Oswaldo Cruz. Instituto Fernandes Figueira. Centro de Genética Médica. Rio de Janeiro, RJ, Brasil / Universidade Federal do Rio de Janeiro. Instituto de Biofísica Carlos Chagas Filho. Unidade Citogenética Humana. Rio de Janeiro, RJ, BrasilFundação Oswaldo Cruz. Instituto Fernandes Figueira. Centro de Genética Médica. Rio de Janeiro, RJ, BrasilporBartoshesky, L., Lewis, M.B. and Pashayan, H.M. (1978). Developmental abnormalities associated with long arm deletion of chromosome 6. Clin. Genet. 13: 68-71.Bzduch, V. and Lukacova, M. (1989). Interstitial deletion of the long arm of chromosome 6(q22.2q23) in a boy with phenotypic features of Williams syndrome. Clin. Genet. 35: 230- 231.Chery, M., De Formiga, L., Mujica, P., Andre, M., Stehelin, D., Dozier, C. and Gilgenkrantz, S. (1989). Interstitial deletion of the long arm of chromosome 6. Ann. Genet. 32: 82-86.Cote, G.B., Papadakou-Lagoyanni, S. and Metaxotou, C. (1981). A de novo interstitial deletion of band q21 on chromosome 6. Ann. Genet. 24: 170-171.Fryns, J.P., Bettens, W. and van den Berghe, H. (1986). Distal deletion of the long arm of chromosome 6: a specific phenotype? Ann. J. Med. Genet. 24: 175-178.Glover, G., Lopez, I., Gabarron, J. and Carmora, J.A. (1988). Partial monossomy 6(q15q21) by de novo interstitial deletion. Clin. Genet. 33: 308-310.Golberg, R., Fish, B., Ship, A. and Shprintzen, R.J. (1980). Deletion of a portion of the long arm of chromosome 6. Ann. J. Med. Genet. 5: 73-80.Hagemeijer, A., Hoovers, J., Smit, E.M.E. and Bootsma, D. (1977). Replication pattern of the X chromosomes in three X/autosomal translocations. Cytogenet. Cell Genet. 18: 333- 348.Ito, H., Yamasaki, T., Okamoto, O. and Tahara, E. (1989). Infantile hemangioendothelioma of the liver in patient with interstitial deletion of chromosome 6: report on an autopsy case. Ann. J. Med. Genet. 34: 325-329.Krassikoff, N. and Sekhon, G.S. (1990). Terminal deletion of 6q and Fryns syndrome: a microdeletion/syndrome pair? Am. J. Med. Genet. 36: 363-364.Kueppers, F., Dewald, G., Gordon, H. and Pineda, A. (1977). Exclusion of HLA locus from a large portion of the long arm of chromosome 6. Hum. Hered. 27: 242-246.Liberfarb, M.R., Atkins, L. and Holmes, L.B. (1978). Chromosome 6q- and associated malformations. Ann. Genet. 21: 223-225.Lonardo, F., Colantuoni, M., Festa, B., Gentile, G., Guerritoire, G., Perone, L., Santulli, B. and Ventruto, V. (1988). A malformed girl with de novo proximal 6q deletion. Ann. Genet. 31: 57-59.Matkins, S.V., Meyer, J.E. and Berry, A.C. (1987). A child with partial monossomy 6q secondary to maternal direct insertional event. J. Med. Genet. 24: 227-229.McLeod, D.R., Fowlows, S.B., Robertson, A., Samcoe, D., Burgess, I. and Hoo, J.J. (1990). Chromosome 6q deletions: a report of two additional cases and a review of the literature. Am. J. Med. Genet. 35: 79-84.McNeal, R.M., Skoglund, R.R. and Francke, U. (1977). Congenital anomalies including the VATER association in a patient with a del(6q) deletion. J. Pediatr. 91: 957-960.Meng, J., Fujita, H., Nagahara, N., Kashiwai, A., Yoshioka, Y. and Funato, M. (1992). Two patients with chromosome 6q terminal deletions with breakpoints at q24.3 and q25.3. Am. J. Med. Genet. 43: 747-750.Mikkelsen, M. and Dyggve, H. (1973). Translocation with loss of chromosome material in the patient and various chromosome aberrations in family members. Humangenetik 18: 195-202.Milosevic, J. and Kalicanin, P. (1975). Long arm deletion of chromosome 6 in a mentally retarded boy with multiple physical malformations. J. Ment. Defic. Res. 19: 139-144.Moorhead, P.S., Nowell, P.C., Mellman, W.J., Battips, D.M. and Hungerford, D.A. (1960). Chromosome preparations of leukocyte cultures from human peripheral blood. Exp. Cell Res. 20: 613-616.Nakamore, Y., Tanaka, T., Hashimoto, T., Kuyama, N. and Maruyama, M. (1980). Interstitial deletion 6q in a malformed boy. Ann. Genet. 23: 49-51.Narahara, K., Tsuji, K., Yokoyama, Y., Namba, H., Murakami, M., Matsubara, T., Kasai, R., Fukushima, Y., Seki, T., Wakui, K. and Seino, Y. (1991). Specification of small distal 6q deletions in two patients by gene dosage and in situ hybridization study of plasminogen and a-L-fucosidase 2. Am. J. Med. Genet. 40: 348-353.Oliveira-Duarte, M.H., Maretelli-Soares, L.R., Sarquis- Cintra, T., Marchado, M.L. and Lison, M.P. (1990). Distal monosomy of the long arm of chromosome 6(q25qter) inherited by maternal translocation. Ann. Genet. 33: 56-59.Park, J.P., Graham, J.M., Suzan, J., Berg, Z. and Wuster-Hill, D.H. (1988). A de novo interstitial deletion of chromosome 6(q22.2q23.1). Clin. Genet. 33: 65-68.Rivas, F., Ruiz, C., Riviera, H., Moller, M., Serrano-Lucas, J.I. and Cantu, J.M. (1986). De novo del(6)(q25) associated with macular degeneration. Ann. Genet. 29: 42-44.Schinzel, A. (1984). Catalogue of Unbalanced Chromosome Aberrations in Man. Walter de Gruyter, New York.Schwartz, M.F., Kaffe, S., Wallace, S. and Marchese, S. (1984). Interstitial deletion of the long arm of chromosome 6del(6)(q16q22): case report and review of the literature. Clin. Genet. 26: 574-578.Seabright, M. (1971). A rapid banding technique for human chromosomes. Lancet 2: 971- 972.Shen-Schwarz, S., Hill, L.M., Surti, U. and Marchese, S. (1989). Deletion of terminal portion of 6q: report of a case with unusual malformations. Am. J. Med. Genet. 32: 81-86.Slater, H.R., Robb, A., Forsyth, L.A., Hamilton, D.A., Clark, M.C. and Galloway, C.A.S. (1988). Interstitial deletion (6)(q11q15) in an infant with congenital abnormalities. J. Med. Genet. 25: 210-211.Stevens, C.A., Fineman, R.M., Breg, W.R. and Siken, A.B. (1988). Report of two cases of distal deletion of the long arm of chromosome 6. Am. J. Med. Genet. 29: 807-814.Turleau, C., Demay, G., Cabanis, M.O., Lenoir, G. and De Grouchy, J. (1988). 6q1 monosomy: a distinctive syndrome. Clin. Genet. 34: 38-42.Valtat, C., Galliano, D., Mettey, R., Toutain, A. and Moraine, C. (1992). Monosomy 6q: report on four new cases. Clin. Genet. 41: 159-166.Yamamoto, Y., Okamoto, N., Shiraishi, H., Yanagisawa, M. and Kamoshita, S. (1986). Deletion of proximal 6q: a clinical report and review of the literature. Am. J. Med. Genet. 25: 467-471.Young, R.S., Fidone, G.S., Reider-Garcia, P.A., Hansen, K.L., McCombs, J.L. and Moore, C.M. (1985). Deletion of the long arm of chromosome 6: two new cases and review of the literature. Am. J. Med. Genet. 20: 21-29.Chromosome 6q deletion: report of a new case and review of the literatureinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleDeleção CromossômicaCromossomos Humanos Par 6Anormalidades MúltiplasDeficiência IntelectualMonossomiainfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da FIOCRUZ (ARCA)instname:Fundação Oswaldo Cruz (FIOCRUZ)instacron:FIOCRUZORIGINALChromosome 6q deletion- Report of a.pdfChromosome 6q deletion- Report of a.pdfapplication/pdf488148https://www.arca.fiocruz.br/bitstream/icict/6323/1/Chromosome%206q%20deletion-%20Report%20of%20a.pdfee265f472d16a9055b1dc9fc55a7a7aaMD51LICENSElicense.txtlicense.txttext/plain; charset=utf-81914https://www.arca.fiocruz.br/bitstream/icict/6323/2/license.txt7d48279ffeed55da8dfe2f8e81f3b81fMD52TEXTChromosome 6q deletion- Report of a.pdf.txtChromosome 6q deletion- Report of a.pdf.txtExtracted texttext/plain19440https://www.arca.fiocruz.br/bitstream/icict/6323/5/Chromosome%206q%20deletion-%20Report%20of%20a.pdf.txtb522305648cbb2d099f6c6125b01a82cMD55THUMBNAILChromosome 6q deletion- Report of a.pdf.jpgChromosome 6q deletion- Report of a.pdf.jpgGenerated Thumbnailimage/jpeg2402https://www.arca.fiocruz.br/bitstream/icict/6323/4/Chromosome%206q%20deletion-%20Report%20of%20a.pdf.jpg5b50c33f4f848cf5b039eab93a88d62aMD54icict/63232018-04-06 08:55:14.811oai:www.arca.fiocruz.br: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ório InstitucionalPUBhttps://www.arca.fiocruz.br/oai/requestrepositorio.arca@fiocruz.bropendoar:21352018-04-06T11:55:14Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)false
dc.title.pt_BR.fl_str_mv Chromosome 6q deletion: report of a new case and review of the literature
title Chromosome 6q deletion: report of a new case and review of the literature
spellingShingle Chromosome 6q deletion: report of a new case and review of the literature
Boy, Raquel
Deleção Cromossômica
Cromossomos Humanos Par 6
Anormalidades Múltiplas
Deficiência Intelectual
Monossomia
title_short Chromosome 6q deletion: report of a new case and review of the literature
title_full Chromosome 6q deletion: report of a new case and review of the literature
title_fullStr Chromosome 6q deletion: report of a new case and review of the literature
title_full_unstemmed Chromosome 6q deletion: report of a new case and review of the literature
title_sort Chromosome 6q deletion: report of a new case and review of the literature
author Boy, Raquel
author_facet Boy, Raquel
Pimentel, Márcia Mattos Gonçalves
Hemerly, Ana Paula
Silva, Maria do Perpétuo Socorro
Barreiro, Ana Paula
Almeida, José Carlos Cabral de
Llerena Junior, Juan Clinton
author_role author
author2 Pimentel, Márcia Mattos Gonçalves
Hemerly, Ana Paula
Silva, Maria do Perpétuo Socorro
Barreiro, Ana Paula
Almeida, José Carlos Cabral de
Llerena Junior, Juan Clinton
author2_role author
author
author
author
author
author
dc.contributor.author.fl_str_mv Boy, Raquel
Pimentel, Márcia Mattos Gonçalves
Hemerly, Ana Paula
Silva, Maria do Perpétuo Socorro
Barreiro, Ana Paula
Almeida, José Carlos Cabral de
Llerena Junior, Juan Clinton
dc.subject.decs.pt_BR.fl_str_mv Deleção Cromossômica
Cromossomos Humanos Par 6
Anormalidades Múltiplas
Deficiência Intelectual
Monossomia
topic Deleção Cromossômica
Cromossomos Humanos Par 6
Anormalidades Múltiplas
Deficiência Intelectual
Monossomia
description Os autores descrevem um novo caso de monossomia parcial do braço longo do cromossomo 6[46,XY,del(6)(q22 qter)]. A ocorrência de retardo psicomotor severo é esperada em funçäo do paciente apresentar um dos maiores segmentos deletados além da banda 6q25.
publishDate 1998
dc.date.issued.fl_str_mv 1998
dc.date.accessioned.fl_str_mv 2013-02-21T18:52:42Z
dc.date.available.fl_str_mv 2013-02-21T18:52:42Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.citation.fl_str_mv BOY, Raquel et al. Chromosome 6q deletion: Report of a new case and review of the literature. Genet. Mol. Biol., Ribeirão Preto, v. 21, n. 1, mar. 1998.
dc.identifier.uri.fl_str_mv https://www.arca.fiocruz.br/handle/icict/6323
dc.identifier.doi.none.fl_str_mv 10.1590/S1415-47571998000100024
identifier_str_mv BOY, Raquel et al. Chromosome 6q deletion: Report of a new case and review of the literature. Genet. Mol. Biol., Ribeirão Preto, v. 21, n. 1, mar. 1998.
10.1590/S1415-47571998000100024
url https://www.arca.fiocruz.br/handle/icict/6323
dc.language.iso.fl_str_mv por
language por
dc.relation.isbasedon.pt_BR.fl_str_mv Bartoshesky, L., Lewis, M.B. and Pashayan, H.M. (1978). Developmental abnormalities associated with long arm deletion of chromosome 6. Clin. Genet. 13: 68-71.
Bzduch, V. and Lukacova, M. (1989). Interstitial deletion of the long arm of chromosome 6(q22.2q23) in a boy with phenotypic features of Williams syndrome. Clin. Genet. 35: 230- 231.
Chery, M., De Formiga, L., Mujica, P., Andre, M., Stehelin, D., Dozier, C. and Gilgenkrantz, S. (1989). Interstitial deletion of the long arm of chromosome 6. Ann. Genet. 32: 82-86.
Cote, G.B., Papadakou-Lagoyanni, S. and Metaxotou, C. (1981). A de novo interstitial deletion of band q21 on chromosome 6. Ann. Genet. 24: 170-171.
Fryns, J.P., Bettens, W. and van den Berghe, H. (1986). Distal deletion of the long arm of chromosome 6: a specific phenotype? Ann. J. Med. Genet. 24: 175-178.
Glover, G., Lopez, I., Gabarron, J. and Carmora, J.A. (1988). Partial monossomy 6(q15q21) by de novo interstitial deletion. Clin. Genet. 33: 308-310.
Golberg, R., Fish, B., Ship, A. and Shprintzen, R.J. (1980). Deletion of a portion of the long arm of chromosome 6. Ann. J. Med. Genet. 5: 73-80.
Hagemeijer, A., Hoovers, J., Smit, E.M.E. and Bootsma, D. (1977). Replication pattern of the X chromosomes in three X/autosomal translocations. Cytogenet. Cell Genet. 18: 333- 348.
Ito, H., Yamasaki, T., Okamoto, O. and Tahara, E. (1989). Infantile hemangioendothelioma of the liver in patient with interstitial deletion of chromosome 6: report on an autopsy case. Ann. J. Med. Genet. 34: 325-329.
Krassikoff, N. and Sekhon, G.S. (1990). Terminal deletion of 6q and Fryns syndrome: a microdeletion/syndrome pair? Am. J. Med. Genet. 36: 363-364.
Kueppers, F., Dewald, G., Gordon, H. and Pineda, A. (1977). Exclusion of HLA locus from a large portion of the long arm of chromosome 6. Hum. Hered. 27: 242-246.
Liberfarb, M.R., Atkins, L. and Holmes, L.B. (1978). Chromosome 6q- and associated malformations. Ann. Genet. 21: 223-225.
Lonardo, F., Colantuoni, M., Festa, B., Gentile, G., Guerritoire, G., Perone, L., Santulli, B. and Ventruto, V. (1988). A malformed girl with de novo proximal 6q deletion. Ann. Genet. 31: 57-59.
Matkins, S.V., Meyer, J.E. and Berry, A.C. (1987). A child with partial monossomy 6q secondary to maternal direct insertional event. J. Med. Genet. 24: 227-229.
McLeod, D.R., Fowlows, S.B., Robertson, A., Samcoe, D., Burgess, I. and Hoo, J.J. (1990). Chromosome 6q deletions: a report of two additional cases and a review of the literature. Am. J. Med. Genet. 35: 79-84.
McNeal, R.M., Skoglund, R.R. and Francke, U. (1977). Congenital anomalies including the VATER association in a patient with a del(6q) deletion. J. Pediatr. 91: 957-960.
Meng, J., Fujita, H., Nagahara, N., Kashiwai, A., Yoshioka, Y. and Funato, M. (1992). Two patients with chromosome 6q terminal deletions with breakpoints at q24.3 and q25.3. Am. J. Med. Genet. 43: 747-750.
Mikkelsen, M. and Dyggve, H. (1973). Translocation with loss of chromosome material in the patient and various chromosome aberrations in family members. Humangenetik 18: 195-202.
Milosevic, J. and Kalicanin, P. (1975). Long arm deletion of chromosome 6 in a mentally retarded boy with multiple physical malformations. J. Ment. Defic. Res. 19: 139-144.
Moorhead, P.S., Nowell, P.C., Mellman, W.J., Battips, D.M. and Hungerford, D.A. (1960). Chromosome preparations of leukocyte cultures from human peripheral blood. Exp. Cell Res. 20: 613-616.
Nakamore, Y., Tanaka, T., Hashimoto, T., Kuyama, N. and Maruyama, M. (1980). Interstitial deletion 6q in a malformed boy. Ann. Genet. 23: 49-51.
Narahara, K., Tsuji, K., Yokoyama, Y., Namba, H., Murakami, M., Matsubara, T., Kasai, R., Fukushima, Y., Seki, T., Wakui, K. and Seino, Y. (1991). Specification of small distal 6q deletions in two patients by gene dosage and in situ hybridization study of plasminogen and a-L-fucosidase 2. Am. J. Med. Genet. 40: 348-353.
Oliveira-Duarte, M.H., Maretelli-Soares, L.R., Sarquis- Cintra, T., Marchado, M.L. and Lison, M.P. (1990). Distal monosomy of the long arm of chromosome 6(q25qter) inherited by maternal translocation. Ann. Genet. 33: 56-59.
Park, J.P., Graham, J.M., Suzan, J., Berg, Z. and Wuster-Hill, D.H. (1988). A de novo interstitial deletion of chromosome 6(q22.2q23.1). Clin. Genet. 33: 65-68.
Rivas, F., Ruiz, C., Riviera, H., Moller, M., Serrano-Lucas, J.I. and Cantu, J.M. (1986). De novo del(6)(q25) associated with macular degeneration. Ann. Genet. 29: 42-44.
Schinzel, A. (1984). Catalogue of Unbalanced Chromosome Aberrations in Man. Walter de Gruyter, New York.
Schwartz, M.F., Kaffe, S., Wallace, S. and Marchese, S. (1984). Interstitial deletion of the long arm of chromosome 6del(6)(q16q22): case report and review of the literature. Clin. Genet. 26: 574-578.
Seabright, M. (1971). A rapid banding technique for human chromosomes. Lancet 2: 971- 972.
Shen-Schwarz, S., Hill, L.M., Surti, U. and Marchese, S. (1989). Deletion of terminal portion of 6q: report of a case with unusual malformations. Am. J. Med. Genet. 32: 81-86.
Slater, H.R., Robb, A., Forsyth, L.A., Hamilton, D.A., Clark, M.C. and Galloway, C.A.S. (1988). Interstitial deletion (6)(q11q15) in an infant with congenital abnormalities. J. Med. Genet. 25: 210-211.
Stevens, C.A., Fineman, R.M., Breg, W.R. and Siken, A.B. (1988). Report of two cases of distal deletion of the long arm of chromosome 6. Am. J. Med. Genet. 29: 807-814.
Turleau, C., Demay, G., Cabanis, M.O., Lenoir, G. and De Grouchy, J. (1988). 6q1 monosomy: a distinctive syndrome. Clin. Genet. 34: 38-42.
Valtat, C., Galliano, D., Mettey, R., Toutain, A. and Moraine, C. (1992). Monosomy 6q: report on four new cases. Clin. Genet. 41: 159-166.
Yamamoto, Y., Okamoto, N., Shiraishi, H., Yanagisawa, M. and Kamoshita, S. (1986). Deletion of proximal 6q: a clinical report and review of the literature. Am. J. Med. Genet. 25: 467-471.
Young, R.S., Fidone, G.S., Reider-Garcia, P.A., Hansen, K.L., McCombs, J.L. and Moore, C.M. (1985). Deletion of the long arm of chromosome 6: two new cases and review of the literature. Am. J. Med. Genet. 20: 21-29.
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.source.none.fl_str_mv reponame:Repositório Institucional da FIOCRUZ (ARCA)
instname:Fundação Oswaldo Cruz (FIOCRUZ)
instacron:FIOCRUZ
instname_str Fundação Oswaldo Cruz (FIOCRUZ)
instacron_str FIOCRUZ
institution FIOCRUZ
reponame_str Repositório Institucional da FIOCRUZ (ARCA)
collection Repositório Institucional da FIOCRUZ (ARCA)
bitstream.url.fl_str_mv https://www.arca.fiocruz.br/bitstream/icict/6323/1/Chromosome%206q%20deletion-%20Report%20of%20a.pdf
https://www.arca.fiocruz.br/bitstream/icict/6323/2/license.txt
https://www.arca.fiocruz.br/bitstream/icict/6323/5/Chromosome%206q%20deletion-%20Report%20of%20a.pdf.txt
https://www.arca.fiocruz.br/bitstream/icict/6323/4/Chromosome%206q%20deletion-%20Report%20of%20a.pdf.jpg
bitstream.checksum.fl_str_mv ee265f472d16a9055b1dc9fc55a7a7aa
7d48279ffeed55da8dfe2f8e81f3b81f
b522305648cbb2d099f6c6125b01a82c
5b50c33f4f848cf5b039eab93a88d62a
bitstream.checksumAlgorithm.fl_str_mv MD5
MD5
MD5
MD5
repository.name.fl_str_mv Repositório Institucional da FIOCRUZ (ARCA) - Fundação Oswaldo Cruz (FIOCRUZ)
repository.mail.fl_str_mv repositorio.arca@fiocruz.br
_version_ 1813009293605076992

Registros relacionados