Leopard syndrome laboratory findings
|
Leopard syndrome Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Leopard syndrome laboratory findings On the Web |
|
American Roentgen Ray Society Images of Leopard syndrome laboratory findings |
|
Risk calculators and risk factors for Leopard syndrome laboratory findings |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mohamed Moubarak, M.D. [2]
Laboratory Findings
The presence of the disease can be confirmed with a genetic test. In a study of 10 infants with clinical indications of Leopard syndrome prior to their first birthday, 8 (80%) patients were confirmed to have the suspected mutation. An additional patient, with the suspected mutation was subsequently found to have NF1, following evaluation of the mother.[1] There are 5 identified allelic variants responsible for Leopard syndrome. Which seems to be a unique familial mutation, in that all other variants are caused by transition errors, rather than transversion.
References
- ↑ Digilio MC, Sarkozy A, de Zorzi A; et al. (2006). "LEOPARD syndrome: clinical diagnosis in the first year of life". Am. J. Med. Genet. A. 140 (7): 740–6. doi:10.1002/ajmg.a.31156. PMID 16523510.