Primary ovarian failure in a mentally retarded woman with a de novo unbalanced X;autosome translocation

摘要: Objective To describe the clinical findings of a patient with de novo unbalanced X;autosome translocation. Design Descriptive case study. Setting Mackay Memorial Hospital, National Yang-Ming University, China Medical University and Chung Shan University. Patient(s) A 33-year-old woman primary ovarian failure, moderate mental retardation, mild phenotype facial dysmorphism. Intervention(s) None. Main Outcome Measure(s) Ultrasound, cytogenetic analysis, laboratory studies hormones. Result(s) Laboratory revealed following values: FSH level 72.48 mIU/mL (normal women: 2 Conclusion(s) This is first report partial monosomy Xq (Xq27.3→qter) trisomy 5q (5q32→qter). The present provides evidence for occurrence failure retardation in females translocations.