Willemsen R, Oostra B A
Department of Clinical Genetics, Erasmus University, P.O. Box 1738, 3000 DR Rotterdam, The Netherlands.
Am J Med Genet. 2000 Fall;97(3):183-8. doi: 10.1002/1096-8628(200023)97:3<183::AID-AJMG1035>3.0.CO;2-3.
Fragile X syndrome is almost always caused by the absence or deficit of the FMR1 protein (FMRP). Diagnostic methods include polymerase chain reaction and Southern blotting, which are performed on DNA isolated from peripheral leukocytes. Recently, different immunocytochemical tests have been described to identify patients with fragile X syndrome, based on the detection of FMRP in cells by a monoclonal antibody. This review aims to provide an update on the different antibody methods for prenatal and postnatal diagnosis of the fragile X syndrome.
