Down syndrome with an unusual etiology: case report and review

PURPOSE: To present the genetic etiology of an unusual case of Down syndrome, arising from translocation of chromosome 21 to chromosome 9; to discuss advanced genetic diagnostic techniques, focusing on how pinpointing a specific genetic mistake can influence treatment and outcome; and to review the role of the nurse practitioner (NP) in caring for families of children with Down syndrome. DATA SOURCES: Case report, literature review, and advanced genetic techniques. CONCLUSIONS: NPs often answer patient questions regarding genetic abnormalities and risk factors for transmission of genetic errors to offspring. Advanced genetic analysis allows for the diagnosis of unusual causes of common genetic disorders. The ability to identify a specific genetic mistake and to predict the scope of its effect on an individual offers health care providers the opportunity to develop a case-by-case plan of care. IMPLICATIONS FOR PRACTICE: NPs have a responsibility to be informed about the processes involved in the transmission of genetic errors and about the subtleties of various expressions of a genetic disorder. The availability of new genetic-testing techniques allows NPs to individualize patient care and family teaching.