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)

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