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Fragile X syndrome and myelodysplasia discovered during pregnancy
Author(s) -
Vorst Eljakim J.,
Levene Naomi A.,
Nisani Rachel,
Berrebi Alain
Publication year - 1993
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1111/j.1365-2141.1993.tb03190.x
Subject(s) - fragile x syndrome , pregnancy , myelodysplastic syndromes , medicine , bone marrow , pediatrics , fragile x , down syndrome , pathology , biology , genetics , psychiatry , gene
Summary 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.