title: Monosomy X as a recurring sole cytogenetic abnormality associated with myelodysplastic diseases.
abstract: Solitary loss of the X chromosome is associated with Turner syndrome and not hematological disorders. We describe five patients with non-constitutional loss of the X chromosome as the sole cytogenetic abnormality in their bone marrow. Three of the five patients had myelodysplastic syndrome (MDS), one case had AML M-6 with evidence suggestive of an evolving MDS, and the last patient had a dysplastic marrow. A review of the literature identified sporadic reports of an association of monosomy X and several hematologic disorders, as well as a few solid tumors. In this series of patients, monosomy X as a sole non-constitutional cytogenetic abnormality in bone marrow is associated with myelodysplastic diseases. In addition, fluorescence in situ hybridization analysis with an X centromere probe indicated that monosomy X was present in erythroid precursors, myeloblasts, promyelocytes, myelocytes, metamyelocytes, granulocytes, and monocytes, while mature lymphocytes presented with two copies of the X chromosome. The molecular cytogenetic evidence supports the diagnosis of a myelodysplastic disorder in these cases and documents the potential role of FISH in hematological disease.
authors.affiliation: Department of Pediatrics, Universita degli Studi di Roma, Tor Vergata, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Abruzzese
authors.forename: P N
authors.initials: PN
authors.lastname: Rao
authors.forename: M
authors.initials: M
authors.lastname: Slatkoff
authors.forename: J
authors.initials: J
authors.lastname: Cruz
authors.forename: B L
authors.initials: BL
authors.lastname: Powell
authors.forename: B
authors.initials: B
authors.lastname: Jackle
authors.forename: M J
authors.initials: MJ
authors.lastname: Pettenati
mesh_terms: D000328:Adult; D000368:Aged; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D015477:Leukemia, Myelomonocytic, Chronic / Q000235:genetics*; D008875:Middle Aged; D009006:Monosomy / Q000235:genetics*; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics*