Familial DiGuglielmo syndrome.
DiGuglielmo syndrome is usually considered an idiopathic disorder occurring sporadically. A family in which DiGuglielmo syndrome occurred in 4 of 11 siblings is reported. A fifth sibling has developed unexplained marrow hypoplasia. Serial morphologic and cytochemical studies, supplemented by cytogenetic studies, documented the evolution of disease. Cytogenetic and environmental investigations did not explain this clustering of blood dyscrasias although a genetic predisposition to marrow damage by environmental factors cannot be excluded. The natural history of the disease in this sibship may consist of initial reactive changes in the marrow with subsequent progression to myelodysplasia with sideroblastosis and, finally, to DiGuglielmo syndrome.
D000328:Adult; D001853:Bone Marrow / Q000473:pathology / Q000648:ultrastructure; D002452:Cell Count; D002869:Chromosome Aberrations; D004200:Diseases in Twins; D005260:Female; D006801:Humans; D006965:Hyperplasia; D007621:Karyotyping; D004915:Leukemia, Erythroblastic, Acute / Q000097:blood / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree