Genetic counselors and research: current practices and future directions.

Members of the genetic counseling community have debated the need for doctoral degree programs to further advance the profession. However, genetic counselors' interest in conducting independent research and attitudes toward obtaining a doctoral degree in genetic counseling has not been assessed in more than a decade. We designed a comprehensive web-based survey to characterize the current research values and practices of genetic counselors.

Upper airway malformation associated with partial trisomy 11q.

11q trisomy is associated with a recognizable pattern of multiple malformations. Review of the literature reveals the following recurrent themes common to complex and isolated 11q trisomy: mental retardation, pre- and postnatal growth retardation, hypotonia, a distinct pattern of facial features, congenital heart defects, and limb malformations. We report four patients with partial trisomy 11q, none of which arose from the common 11/22 translocation.

Unexpected survival in a case of prenatally diagnosed non-mosaic trisomy 22: Clinical report and review of the natural history.

Over 30 cases of complete non-mosaic trisomy 22 have been reported in the literature in the last 20 years [Crowe et al., 1997: Am J Med Genet 71:406-413]. Twenty-two infants were liveborn with an average life expectancy of four days.