A unique 7p/12q chromosomal abnormality associated with recurrent abortion and hypofibrinogenemia

Recurrent first trimester abortions led to evaluation of a 25-year-old woman. Studies revealed she had hypofibrinogenemia (68 mg/dL) without evidence of dysfibrinogenemia or increased fibrinogen turnover. She was also found to have a unique 46,XX, t(7;12) (p 15.2;q24.31) karyotype. Hypofibrinogenemia and identical chromosomal abnormalities were found in other members of her kindred. Southern blots of genomic DNA from the patient, her mother, and her daughter hybridized to human fibrinogen probes showed alpha, beta, and gamma fibrinogen genes to be present and without structural alterations when compared to normal controls. We conclude that the chromosomal abnormality and the hypofibrinogenemia are related but in an unclear manner. Because fibrinogen infusion in the proposita was associated with successful gestation, we also concluded that the chromosomal abnormality itself was not responsible for the repeated abortions but that fibrinogen concentration may be critical in securing implantation.