Albright S G, Lachiewicz A M, Tarleton J C, Rao K W, Schwartz C E, Richie R, Tennison M B, Aylsworth A S
Department of Pediatrics, University of North Carolina at Chapel Hill 27599.
Am J Med Genet. 1994 Jul 15;51(4):294-7. doi: 10.1002/ajmg.1320510403.
A 2-year-old boy with manifestations of the fragile X syndrome was found to have a cytogenetically visible deletion of Xq27-q28 including deletion of FMR-1. Molecular analysis of the patient was recently described in Tarleton et al. [1993: Hum Mol Genet 2(11): 1973-1974] and the deletion was estimated to be at least 3 megabases (Mb). His mother had 2 FMR-1 alleles with normal numbers of CGG repeats, 20 and 32, respectively. Thus, the deletion occurred as a de novo event. The patient does not appear to have clinical or laboratory findings other than those typically associated with fragile X syndrome, suggesting that the deletion does not remove other contiguous genes. This report describes the phenotype of the patient, including psychological studies.
