A case of Shwachman syndrome with increased spontaneous chromosome breakage.
In a patient with Shwachman syndrome, a high incidence of chromosome breakage was found. Chromosome studies done on three occasions on the patient's PHA-stimulated peripheral blood lymphocytes showed elevated frequencies of spontaneous chromosome aberrations compared with those in normal individuals. The patient's lymphocytes did not show increased sensitivity to mitomycin C.
D001855:Bone Marrow Diseases / Q000235:genetics*; D002869:Chromosome Aberrations; D002873:Chromosome Fragility; D010188:Exocrine Pancreatic Insufficiency / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008214:Lymphocytes / Q000187:drug effects / Q000648:ultrastructure; D016685:Mitomycin; D008937:Mitomycins / Q000494:pharmacology; D013577:Syndrome
D008937:Mitomycins; D016685:Mitomycin