Familial Monosomy 7 Syndrome is a rare disorder associated with progression to myelodysplasia and acute myeloid leukemia (AML).
Karyotype: (45, XY, -7) in males and (45,XX, -7) in females
Often mosaic with normal cells with disomy 7.
Diagnostic criteria for monosomy 7 - all of the following:
(1) monosomy 7 cells identified in peripheral blood or bone marrow
(2) monosomy 7 cell lines identified on bone marrow exam
(3) exclusion of other hematologic disorders with clonal acquisition of monosomy 7
For a diagnosis of the familial disorder there must be other family members with hematologic findings and presence of monosomy 7. A family member may initially have a normal karyotype but develop the monosomy later.
Hematologic findings may appear in early childhood:
(1) bone marrow insufficiency with thrombocytopenia, anemia and/or neutropenia, including bone marrow aplasia
(2) red cell macrocytosis
(3) increased hemoglobin F concentration
(4) myelodysplasia
(5) acute myeloid leukemia (AML)
