title: Fragile X phenotype in a patient with a large de novo deletion in Xq27-q28.
abstract: 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.
authors.affiliation: Department of Pediatrics, University of North Carolina at Chapel Hill 27599.
authors.forename: S G
authors.initials: SG
authors.lastname: Albright
authors.forename: A M
authors.initials: AM
authors.lastname: Lachiewicz
authors.forename: J C
authors.initials: JC
authors.lastname: Tarleton
authors.forename: K W
authors.initials: KW
authors.lastname: Rao
authors.forename: C E
authors.initials: CE
authors.lastname: Schwartz
authors.forename: R
authors.initials: R
authors.lastname: Richie
authors.forename: M B
authors.initials: MB
authors.lastname: Tennison
authors.forename: A S
authors.initials: AS
authors.lastname: Aylsworth
mesh_terms: D002873:Chromosome Fragility; D005600:Fragile X Syndrome / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D010641:Phenotype