Objective: To describe the clinical findings of a patient with a de novo unbalanced X;autosome translocation.
Design: Descriptive case study.
Setting: Mackay Memorial Hospital, National Yang-Ming University, China Medical University, China Medical University Hospital, and Chung Shan Medical University.
Patient(s): A 33-year-old woman with primary ovarian failure, moderate mental retardation, and mild phenotype of facial dysmorphism.
Intervention(s): None.
Main outcome measure(s): Ultrasound, cytogenetic analysis, and laboratory studies of hormones.
Result(s): Laboratory studies revealed the following values: FSH level 72.48 mIU/mL (normal women: <40 mIU/mL), LH level 32.87 mIU/mL (normal women: <21 mIU/mL), and E(2) level <20 pg/mL (normal women up to 375 pg/mL), confirming primary ovarian failure. The PRL level was normal. Spectral karyotyping and G-banding cytogenetic analysis revealed a derivative X chromosome containing additional chromosomal material derived from the distal long arm of chromosome 5. The derived chromosome X had break points at Xq27.3 and 5q32, resulting in monosomy Xq (Xq27.3-->qter) and partial trisomy 5q (5q32-->qter). The patient's karyotype was 46,X,der(X)t(X;5)(q27.3;q32). The parental karyotypes were normal.
Conclusion(s): This is the first report of partial monosomy Xq (Xq27.3-->qter) and partial trisomy 5q (5q32-->qter). The present case provides evidence for the occurrence of primary ovarian failure and mental retardation in females with unbalanced X;autosome translocations.