Acute myelomonocytic leukemia with bone marrow eosinophilia and inv(16)(p13q22),t(1;16)(q32;q22).
A two-year-old girl presenting with de novo acute myelomonocytic leukemia with eosinophilia (French-American-British [FAB] classification, M4Eo) and inv(16)(p13q22), t(1;16)(q32;q22) involving the same chromosome 16 is described. This is the second report of a variant translocation of an inverted chromosome 16 with chromosome 1 at 1q32. However, the segment 1q32----1qter has been exchanged for 16q22----qter and not 16p13----pter, as reported in the previous case. The additional break at 1q32 and the juxtaposition of 1q32----qter onto chromosome 16 could be relevant to the pathogenesis of the disease.
Yip
M Y
MY
Cytogenetics and Cell Biology Unit, Prince of Wales Hospital, Sydney, N.S.W., Australia.
Sharma
P
P
White
L
L
D001853:Bone Marrow / Q000473:pathology; D007446:Chromosome Inversion; D002878:Chromosomes, Human, Pair 1; D002885:Chromosomes, Human, Pair 16; D004802:Eosinophilia / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D015479:Leukemia, Myelomonocytic, Acute / Q000175:diagnosis / Q000235:genetics*; D009030:Mosaicism; D014178:Translocation, Genetic