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

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.