Unusual pseudo dicentric, psu dic (1;19)(q10;q13.42), in a female with premature ovarian failure

Objective: To provide a hypothesis regarding the cause of premature ovarian failure (POF) observed in a 27-year-old with a mosaic dicentric chromosome. Design: Case report. Setting: Cytogenetics/molecular cytogenetics laboratory in a university hospital. Patient(s): A 27-year-old female with POF. Intervention(s): Karyotype and fluorescence in situ hybridization. Main Outcome Measure(s): Metaphases were studied by standard G- and C-banding methods; fluorescence in situ hybridization method was used to characterize the abnormality. Result(s): Chromosome analysis detected a mosaic dicentric chromosome, psu dic (1;19)(q10;q13.42), in about 10% of metaphases from the cultured peripheral blood lymphocytes. The remaining 90% of metaphases showed normal karyotype. A repeat analysis showed the same results. Chromosome analysis from cultured skin fibroblasts showed only normal karyotype. Conclusion(s): We propose two hypotheses to explain the POF seen in our patient: [1] Dicentric chromosomes, as seen in our patient, are known to cause segregation errors resulting in the breakdown/arrest of meiosis. Such a breakdown/arrest of meiosis could lead to oligomenorrhea seen in our patient. [2] The recently identified gene MATER, which is mapped at 19q13.4, could be the causative gene. MATER is a maternal effect gene that is required for early embryonic development. The gene and its protein serve as an autoantigen in a mouse model of autoimmune POF that is strikingly similar to human POF.