RESUMO
The role of the nurse in the delivery of genetic counseling services initially was developed by nurses working in multidisciplinary teams serving the developmentally disabled and mentally retarded. Both the characteristics of the role and the need for didactic content and clinical experiences were well articulated as early as the early to mid-1960s. Since that time, many nurses have published their interpretations of the role in light of their individual practice and the state of the art. The basic elements of case finding and referral, explaining the process of genetic evaluation and counseling to families, constructing a family pedigree, assisting the family in gathering records and documentation, clarifying genetic information, and providing long-term management assistance remain basically the same. What changes is the information available and the population to which the information may be applied. Prenatal diagnosis and the identification of individuals at risk for common disorders are two good examples of change based on emerging scientific information.
Assuntos
Aconselhamento Genético/organização & administração , Testes Genéticos/organização & administração , Cuidados de Enfermagem/métodos , Papel (figurativo) , Educação em Enfermagem , Família , Testes Genéticos/enfermagem , Humanos , Descrição de Cargo , Equipe de Assistência ao Paciente , Educação de Pacientes como Assunto , Linhagem , Encaminhamento e ConsultaRESUMO
The need for education of nurses in genetics was articulated more than 25 years ago. This article reviews the knowledge of practicing nurses about genetics as well as the content of genetics in nursing curricula. Implementation of federal legislation that mandated increased availability of genetic services and genetics education provided support for the examination of genetics content in curricula for health professionals, including nurses, and for the development of model programs to expand this content. Recent efforts to begin to develop a pool of nurse faculty who are well prepared in genetics will be described, as well as programs to provide the necessary content through continuing-education efforts. These efforts are expected to substantially improve the capability of nurses to contribute more effectively in the delivery of genetic services.
Assuntos
Educação em Enfermagem , Genética Médica/educação , Currículo , Educação Continuada em Enfermagem , Genética/educação , Estados UnidosRESUMO
A girl with trisomy-21/normal mosaicism has been observed for approximately 10 years. Her appearance is reminiscent of, but not typical for Down's syndrome, and her intellectual abilities are impaired but not to the same severe degree expected in Down's syndrome. These observations are consistent with the belief that, in persons ascertained by clinical resemblance to Down's syndrome. The cytogenetic studies performed longitudinally demonstrated a significant decrease in the proportion of blood lymphocytes showing the trisomic line. The maximal decrease occurred in the first year of life. A direct preparation from the bone marrow and a fibroblast culture at 2.5 months showed 3 and 4% trisomic cells, respectively, corresponding to the level of trisomic cells from the blood cultures during the second year of life.
Assuntos
Síndrome de Down/genética , Mosaicismo , Medula Óssea/ultraestrutura , Criança , Feminino , Fibroblastos/ultraestrutura , Humanos , Linfócitos/ultraestruturaRESUMO
We studied eight persons whose karyotypes demonstrated deletion of a portion of the long arm of chromosome 18. Seven of these persons who showed the typical del(18q) syndrome had a common deletion in band 18q21, most likely band q21.3, and in at least two persons the deletion was interstitial. Another mentally retarded child, dissimilar in appearance, had a more proximal deletion within band 18q12. Two different clinical syndromes resulted from deletions of these different segments of the long arm of chromosome 18.
