GILLESPIE SYNDROME PHENOTYPE WITH A T(X-11)(P22.32-P12) DE-NOVO TRANSLOCATION

PURPOSE: To report a patient with a phenotype suggestive of Gillespie syndrome and with a chromosomal abnormality. METHODS: Clinical evaluat ion showed bilateral superior coloboma, foveal hypoplasia, and inferio r cerebellar hypoplasia. Karyotyping as well as investigation of the P A chi 6 gene were performed. RESULTS: The karyotype of the patient dis closed a de novo translocation t(X;11)(p22.32;p12). Fluorescent in sit u hybridization and the search for mutations excluded direct implicati on of the PA chi 6 gene. CONCLUSION: This is, to our knowledge, the fi rst report of a chromosomal abnormality detected in a patient with a G illespie syndrome phenotype. (C) 1998 by Elsevier Science Inc. All rig hts reserved.