Fragile X phenotype in a patient with a large de novo deletion in Xq27-q28.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Albright, SG; Lachiewicz, AM; Tarleton, JC; Rao, KW; Schwartz, CE; Richie, R; Tennison, MB; Aylsworth, AS

Published Date

  • July 15, 1994

Published In

Volume / Issue

  • 51 / 4

Start / End Page

  • 294 - 297

PubMed ID

  • 7942990

International Standard Serial Number (ISSN)

  • 0148-7299

Digital Object Identifier (DOI)

  • 10.1002/ajmg.1320510403


  • eng

Conference Location

  • United States