Shekhter-Levin S, Mirro J, Penchansky L, Sherer M E, Wald N, Gollin S M
Department of Human Genetics, University of Pittsburgh, Children's Hospital of Pittsburgh, Pennsylvania.
Cancer Genet Cytogenet. 1994 Apr;73(2):157-60. doi: 10.1016/0165-4608(94)90201-1.
Cytogenetic analysis of bone marrow cells demonstrated a pericentric inversion of chromosome 6 when acute myeloblastic leukemia (AML) was diagnosed in a 15-month-old child with Down syndrome. The abnormal clone with inv(6)(p24q16) was associated with FAB-M1 AML and disappeared when a complete remission was achieved. This is a unique cytogenetic abnormality for FAB-M1 AML in a child with Down syndrome and, to our knowledge, is only the second case of a pericentric inversion of chromosome 6 reported in AML.