RESUMO
The authors describe a family with three members affected by glioblastoma. The proband patient, a 7 year-old girl, developed a rare complication, a pulmonary metastasis. Chromosomal analysis of her peripheral blood lymphocytes showed a normal karyotype (46, XX), without structural abnormalities. Cytogenetic study of the tumor cells disclosed several abnormalities: 46, XX, 7q-/46, XX, -2, 4p-, 7p-, +15/46, XX. Some aspects about genetics of glial neoplasms are discussed.
Assuntos
Neoplasias Encefálicas/genética , Aberrações Cromossômicas , Transtornos Cromossômicos , Glioblastoma/genética , Neoplasias Pulmonares/secundário , Adulto , Criança , Feminino , Glioblastoma/patologia , Glioblastoma/terapia , Humanos , Masculino , Linhagem , Translocação GenéticaRESUMO
The authors report two cases of infantile metachromatic leucodystrophy in monozygotic female twins, born from a second cousin marriage (f = 1/32). The zygosity was determined by means of obstetrics and genetics marker findings.
Assuntos
Doenças em Gêmeos , Leucodistrofia Metacromática/genética , Pré-Escolar , Feminino , Marcadores Genéticos , Genótipo , Humanos , Gêmeos MonozigóticosRESUMO
A doenca de Kyrle e uma afeccao rara devida a um disturbio da queratinizacao.Os autores apresentam um relato de dois casos com lesoes cujos aspectos clinicos e histopatologicos sao tipicos da doenca de Kyrle. Sao abordados alguns topicos clinicos, histopatologicos e geneticos da enfermidade e feita a revisao de literatura a partir de 1955
Assuntos
Criança , Adulto , Humanos , Masculino , Feminino , Doença de Darier , Diagnóstico DiferencialRESUMO
We report another case of acheiropodia, a rare autosomal recessive trait of distal limb deficiency, to date seen only in Brazil in persons of Portuguese ancestry. The patient's parent were first cousins; she had two younger affected sisters. She presented with signs of vascular insufficiency of the lower stumps, which after amputation were found to lack large vessels below the knee.
Assuntos
Anormalidades Múltiplas/genética , Deformidades Congênitas do Pé , Genes Recessivos , Deformidades Congênitas da Mão , Adulto , Brasil , Consanguinidade , Feminino , Humanos , Perna (Membro)/irrigação sanguínea , Linhagem , Fenótipo , Portugal/etnologiaRESUMO
A 10 year old girl with a mental age of 7-8 years, normal height and head circumference and several minor anomalies had hemiasymmetry of the entire body, the left side being uniformly smaller than the right. The smaller side was considered the abnormal side and her condition interpreted as hemihypotrophy on the basis of a chromosome abnormality which involved mosaicism, with lymphocytes showing a balanced but very unequal translocation of most of 13q transferred to 7p and both translocation chromosomes being present, and all examined fibroblasts lacking the small translocation chromosome and hence being monosomic for 13p, proximal part of 13q and a terminal portion of 7p.
