Assuntos
Citocromos b/genética , Síndrome de Down/genética , Adulto , Citocromos b/metabolismo , Síndrome de Down/patologia , Feminino , Fibroblastos/citologia , Fibroblastos/metabolismo , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , RNA Mensageiro/metabolismo , Reação em Cadeia da Polimerase em Tempo Real , Adulto JovemRESUMO
We examined 16 cases of gastrointestinal cancer, of which 11 were from the colon, 1 from the rectum, and 4 of gastric origin, cytogenetically for expression and for loss of heterozygosity (LOH) on chromosome 18 using Deleted Colon Cancer (DCC) gene. LOH on chromosome 18 with DCC probe was detected in 7 out of 11 cases of colon, in 4 out of 4 cases of gastric and in 1 case of rectum cancer. In all gastrointestinal tumors the expression of DCC gene was absent, while it was present in normal tissue. We also found rearrangements of chromosomes 18 (10 cases) and 17 (9 cases), leading respectively to deletions of long and short arms. Other additional abnormalities were observed involving chromosomes 5, 6, 15 and 19. The data recorded in our series differ from other authors' data in three respects: a high incidence of pseudodiploid chromosome number, rearrangements of chromosome 19 and 15, and involvement of DCC gene in the development of gastric cancer, as well as in colorectal cancer as previously reported.
Assuntos
Aberrações Cromossômicas , Transtornos Cromossômicos , Cromossomos Humanos Par 18 , Neoplasias do Colo/genética , Rearranjo Gênico , Neoplasias Retais/genética , Neoplasias Gástricas/genética , Idoso , Alelos , Bandeamento Cromossômico , Mapeamento Cromossômico , Neoplasias do Colo/patologia , DNA de Neoplasias/análise , Feminino , Deleção de Genes , Marcadores Genéticos , Humanos , Cariotipagem , Masculino , Pessoa de Meia-Idade , Neoplasias Retais/patologia , Neoplasias Gástricas/patologiaRESUMO
We report on mosaic 46,XY/46,XY,del(5)(p15) cri du chat syndrome. The clinical findings are compared with those compiled from a literature survey. A phoniatric evaluation was performed and compared with that of a cri du chat patient without mosaicism previously observed by the authors.
Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 5 , Síndrome de Cri-du-Chat/genética , Mosaicismo/genética , Humanos , Recém-Nascido , Cariotipagem , Masculino , Fenótipo , Espectrografia do SomRESUMO
Fragile sites on chromosomes 9, at 9p21, 10, at 10q25 and 12, at 12q24, were found in the lymphocytes of some members of three families during the study for detection of a fragile X chromosome. The sites were found to be heritable and folato-sensitive. The genetic implications of these results are discussed.
Assuntos
Fragilidade Cromossômica , Cromossomos Humanos Par 10 , Cromossomos Humanos Par 12 , Cromossomos Humanos Par 9 , Síndrome do Cromossomo X Frágil/genética , Sítios Frágeis do Cromossomo , Feminino , Humanos , Masculino , LinhagemRESUMO
Expression of the fragile site fra(X) (q27.3) in peripheral lymphocytes was evaluated in mentally retarded patients and in normal control individuals before and after administration of the antifolic agent trimethoprim for 7 days. This treatment was effective in converting the status of some individuals from fra(X)-negative to fra(X)-positive. However, the induced level of fra(X) expression was very low and not significantly different in patients and in control subjects and did not increase in those individuals where it was already present before treatment. These data support the contention that fra(X)(q27.3) is a common fragile site and that treatment in vivo with an antifolic agent is not effective in enhancing its degree of expression in vitro. Therefore, such treatment seems to be of no diagnostic value in those cases where the fra(X) syndrome is suspected clinically, but where there is no or very low cytogenetic expression of the fra(X).