Article
Fragile X phenotype in a patient with a large de novo deletion in Xq27-q28.
American journal of medical genetics - 15 Jul 1994
Albright S G, Lachiewicz A M, Tarleton J C, Rao K W, Schwartz C E, Richie R, Tennison M B, Aylsworth A S
Abstract excerpt
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 esti...
Topics
- Chromosome Fragility
- Fragile X Syndrome
- Gene Deletion
- Humans
- Infant
- Karyotyping
- Male
- Phenotype