Fragile X syndrome and myelodysplasia discovered during pregnancy

Abstract

We describe a female patient who presented at pregnancy with leucopenia and was found to suffer from both fragile X syndrome [Fra(X)] and myelodysplastic syndrome with cytogenetic abnormalities in bone marrow cells including 4q+ and deletion D13. To date only four cases of Fra(X) syndrome with malignant tumours (one haematological), all in male patients, have been reported. We believe that the occurrence of the myelodysplastic syndrome in this patient could be more than coincidental.