Characterization of the practice and attitudes of genetic counselors with doctoral degrees.

Potential advantages and disadvantages of doctoral training in genetic counseling have been debated. In this study, individual interviews were conducted to characterize the practice and attitudes of genetic counselors who have achieved doctoral degrees in any field. Participants (N=31) were more likely to spend time in research and less likely to spend time in clinic than genetic counselors in general. Advantages identified by participants were consistent with theorized advantages, and included increased knowledge, wider research roles, additional opportunities and greater respect. Disadvantages identified by participants focused more on individual perspectives than previously theorized profession-wide disadvantages. These included increased time commitment and decreased patient contact. The attitudes of participants towards the development of doctoral training in genetic counseling were generally positive. The results suggest that doctoral training in genetic counseling would have more benefits than drawbacks for individuals pursuing this degree.

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. Three of the four patients had the previously unreported finding of upper airway obstruction secondary to a malformed epiglottis. The critical region for this malformation appears to be 11q21-23.2.

Dilated ascending aorta in a child with ring chromosome 21 syndrome.

Ring chromosome 21 syndrome is a rare condition with a well-characterized phenotype. Affected individuals have recognizable dysmorphic features, developmental delays, growth retardation, and a predisposition for congenital malformations involving the neurologic, craniofacial, digestive, genitourinary, skeletal, and hematologic systems. Structural cardiac anomalies have also been described, but dilated ascending aorta has not been previously reported in association with ring 21 (r(21)). Although rarely seen in this syndrome, the presence of ectopia lentis, abdominal herniae, and dilated ascending aorta suggest an underlying connective tissue disorder. A possible explanation is haploinsufficiency of the COL6A1, COL6A2, and/or COL18A genes located on the distal portion of chromosome 21q, which are lost when the ring chromosome is formed. This article contains supplementary material, which may be viewed at the American Journal of Medical Genetics website at http://www.interscience.wiley.com/jpages/0148-7299/suppmat/index.html.

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. Of these, nine survived beyond the first two weeks of life. The life span ranged from minutes to 3 years of age. We report a case of an infant diagnosed prenatally with complete non-mosaic trisomy 22. Options such as aggressive medical/surgical intervention or limiting interventions to symptomatic care including home hospice were discussed openly. Given this information, the family elected to provide minimal supportive measures with pediatric hospice. The infant lived for 2 months with her family before her death. Numerous medical and surgical complications are associated with this disorder. Both the family and the medical team must be prepared for in utero fetal demise, stillbirth, or for limited life expectancy. Proper management, therefore, depends upon an understanding of the diagnosis.