Blood, 1967, Vol. 29, No. 2, pp. 233-241.
© 1967 American Society of Hematology, Inc.
A Marrow Chromosomal Abnormality Preceding Clinical
Leukemia in Down’s Syndrome
ALAN P. DEMAYO 1,
KOSMAS A. KIOSSOGLOU 1,
MARION E. ERLANDSON 1,
REBECCA F. NOTTERMAN 1, and
JAMES GERMAN 1
1 Division of Human Genetics, Department of Pediatric, Cornell University
Medical College, New York, N. Y., and the Blood Research Laboratory, New England
Medical Center Hospitals, Tufts University School of Medicine, Boston, Mass.
During a routine diagnostic cytogenetic study of the marrow of a child with
Down’s syndrome, a minor line of cells with a complement of 50 chromosomes
was discovered. The predominant cell in marrow and blood had 47 chromosomes with the standard trisomy in Group 21-22. Although anemia and thrombocytopenia were present, other diagnostic criteria of leukemia did not appear
until several weeks later. It is proposed that careful cytogenetic studies combined with serial clinical evaluation may disclose important relationships between chromosomal mutation, aneuploid stemlines, and the production and
evolution of neoplasms.
Submitted on December 29, 1965
Accepted on September 14, 1966
