title: [Telomeric fusion of the short arms of both X chromosomes in a patient presenting an atypical Turner syndrome].
abstract: A case of atypical Turner's syndrome with unusual karyotype is reported. The chromosome complements of the patient, studied with different banding techniques, is 45,XO/46,X,dic(X)(Xqter leads to p22::p22 leads to qter). In the literature 8 similar cases have been reported. Short stature and amenorrhea are the most constant findings. The mechanisms by which the observed chromosomal "rearrangement" can be produced are briefly discussed.
mesh_terms: D000328:Adult; D002871:Chromosome Banding; D002875:Chromosomes; D005260:Female; D006801:Humans; D012729:Sex Chromosome Aberrations; D014424:Turner Syndrome / Q000235:genetics*
vernacular_title: Fusion telomérique de deux chromosomes X par leurs bras courts chez une patiente présentant un syndrome de Turner atypique.