Recorrência de comunicaçäo interatrial em três geraçöes / Recurrence of atrial septal defect in three generations

Beginning with a patient presenting with an atrial septal defect (ASD) of the secundum type, the genealogy was identified in four affected individual who belonged to three successive generations of the same family. The defects were visually confirmed in all individuals and were found to be anatomically similar. No other congenital malformations were present in these individuals. The generology was identified in 1972, when ASD recurred in two generations, and it was concluded that the mechanism of transmission was autossomal recessive. The fifth individual, identified 21 years later, and having an anomaly identical to that of the others, was the child of a couple who had no consaguinity and whose mother was a member of the previously studied genealogy. Considering the abscense of phenotype in the parents and the rarity of the ASD gene in the general population, the ocurrence of the uniparental disomy for this family nucleus, and the same autosomal recessive mechanism of transmission by this affected individual is possible. This study reports the familial occurrence of ASD by genetic mechanisms of transmission, emphasizing the necessity for genetic-clinical studies in members of the familial nucleus in order to detect new carriers, who usually are asymptomatic, thereby allowing for early and adequate treatment of individuals who may be affected.

Immunochemical studies of amniotic fluid: decrease of a 36,000 polypeptide in pregnancies of fetuses with Down's syndrome

Nós estudamos 14 amostras de líquidos amnióticos obtidos de gravidezes nas quais os fetos apresentavam Síndrome de Down, assim como um número igual de controles normais ajustados pela idade gestacional. Todas as amostras foram analisadas por "Western Blots" uni e bidimensionais com um anti-soro específico para proteínas fetais do líquido amniótico humano. Em 10 das 14 amostras (71%) havia reduçäo importante de um polipeptídeo com peso molecular de 36.000 (P36). Assim que sejam desenvolvidos imunoensaios quantitativos, a deficiência de P36 pode provar ser de utilidade no diagnóstico pré-natal de Síndrome de Down