RESUMO
The Williams-Beuren syndrome (WBS) locus, at 7q11.23, is prone to recurrent chromosomal rearrangements, including the microdeletion that causes WBS, a multisystem condition with characteristic cardiovascular, cognitive, and behavioral features. It is hypothesized that reciprocal duplications of the WBS interval should also occur, and here we present such a case description. The most striking phenotype was a severe delay in expressive speech, in contrast to the normal articulation and fluent expressive language observed in persons with WBS. Our results suggest that specific genes at 7q11.23 are exquisitely sensitive to dosage alterations that can influence human language and visuospatial capabilities.
Assuntos
Cromossomos Humanos Par 7 , Duplicação Gênica , Transtornos do Desenvolvimento da Linguagem/genética , Distúrbios da Fala/genética , Transtorno do Deficit de Atenção com Hiperatividade/complicações , Criança , Deleção Cromossômica , Feminino , Dosagem de Genes , Humanos , Transtornos do Desenvolvimento da Linguagem/complicações , Masculino , FenótipoRESUMO
Genetic counseling is viewed as a therapeutic interrelationship between genetic counselors and their clients. In a previous relational ethics research project, various themes were identified as key components of relational ethics practice grounded in everyday health situations. In this article the relational ethics approach is further explored in the context of genetic counseling to enhance our understanding of how the counselor-client relationship is contextually developed and maintained. Qualitative interviews were conducted with six adult clients undergoing genetic counseling for predictive testing. Engagement, dialogue and presence were revealed as relevant to genetic counselor-client relationships. A relational ethics approach in genetic counseling challenges the concept of nondirectiveness and may enhance the outcome of counseling for both counselor and client.