| Author | Boy, Raquel | |
| Author | Pimentel, Márcia Mattos Gonçalves | |
| Author | Hemerly, Ana Paula | |
| Author | Silva, Maria do Perpétuo Socorro | |
| Author | Barreiro, Ana Paula | |
| Author | Almeida, José Carlos Cabral de | |
| Author | Llerena Junior, Juan Clinton | |
| Access date | 2013-02-21T18:52:42Z | |
| Available date | 2013-02-21T18:52:42Z | |
| Document date | 1998 | |
| Citation | 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. | pt_BR |
| URI | https://www.arca.fiocruz.br/handle/icict/6323 | |
| Abstract in Portuguese | 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. | pt_BR |
| Sponsorship | UERJ | pt_BR |
| Language | por | pt_BR |
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| Rights | open access | pt_BR |
| Title | Chromosome 6q deletion: report of a new case and review of the literature | pt_BR |
| Type | Article | pt_BR |
| DOI | 10.1590/S1415-47571998000100024 | |
| Abstract | 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. | pt_BR |
| Affilliation | Universidade do Estado do Rio de Janeiro. Instituto de Biologia. Departamento de Biologia Celular e Genética. Serviço de Genética Humana. Rio de Janeiro, RJ, Brasil | pt_BR |
| Affilliation | Universidade do Estado do Rio de Janeiro. Instituto de Biologia. Departamento de Biologia Celular e Genética. Serviço de Genética Humana. Rio de Janeiro, RJ, Brasil | pt_BR |
| Affilliation | Universidade do Estado do Rio de Janeiro. Instituto de Biologia. Departamento de Biologia Celular e Genética. Serviço de Genética Humana. Rio de Janeiro, RJ, Brasil | pt_BR |
| Affilliation | Universidade do Estado do Rio de Janeiro. Instituto de Biologia. Departamento de Biologia Celular e Genética. Serviço de Genética Humana. Rio de Janeiro, RJ, Brasil | pt_BR |
| Affilliation | Universidade do Estado do Rio de Janeiro. Instituto de Biologia. Departamento de Biologia Celular e Genética. Serviço de Genética Humana. Rio de Janeiro, RJ, Brasil | pt_BR |
| Affilliation | Fundação 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, Brasil | pt_BR |
| Affilliation | Fundação Oswaldo Cruz. Instituto Fernandes Figueira. Centro de Genética Médica. Rio de Janeiro, RJ, Brasil | pt_BR |
| DeCS | Deleção Cromossômica | pt_BR |
| DeCS | Cromossomos Humanos Par 6 | pt_BR |
| DeCS | Anormalidades Múltiplas | pt_BR |
| DeCS | Deficiência Intelectual | pt_BR |
| DeCS | Monossomia | pt_BR |
