Down syndrome with an unusual etiology: case report and review.
OBJECTIVE
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.


METHODS
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.


CONCLUSIONS
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.
Pastva
Mattie
M
Pennsylvania State University School of Nursing, University Park, USA.
Corwin
Elizabeth J
EJ
Morin
Karen
K
D002675:Child, Preschool; D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D004314:Down Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000451:nursing; D005817:Genetic Counseling / Q000379:methods; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007255:Information Services; D020407:Internet; D008297:Male; D009722:Nurse Practitioners / Q000458:organization & administration; D024802:Nurse's Role; D010290:Parents / Q000193:education / Q000523:psychology; D010375:Pedigree; D010641:Phenotype; D011320:Primary Health Care / Q000379:methods; D014178:Translocation, Genetic / Q000235:genetics*; D014314:Trisomy / Q000235:genetics