Co-existence of alternative forms of 8q gain in cytogenetic clones of three patients with acute myeloid leukemia, pointing to 8q22 approximately 8qter as a region of biologic significance.

Clonal trisomy 8 chromosome abnormalities can be detected in 15% of patients with acute myeloid leukemia (AML). The most common form of change is complete gain of the whole chromosome 8, followed by partial gains in unbalanced forms. The biologic consequences of trisomy 8 remain unclear, but a gene dosage effect is suspected. We report on three patients with AML who had alternative forms of chromosome 8 gain in their bone marrow cells. The partial gains resulted from a breakpoint in the chromosome band 8q22. This indicates that the region 8q22 to 8qter may be of particular pathogenetic importance.

Two unbalanced translocations involving a common 6p25 region in two XY female patients.

We report two 46,XY female patients with two different de novo unbalanced translocations, each involving the chromosomal region 6p25. The patient with a 46,XY,der(6)t(X;6)(p21.2;p25) karyotype had a sex reversal phenotype. The patient with a 46,XY,der(13)t(6;13)(p25;q33) karyotype had a male pseudohermaphrodite phenotype. Multi-paint fluorescent in situ hybridization was performed to determine the origin of the derivative material on 6p and 13q. The association of abnormalities of the 6p25 region with either an Xp duplication or a 13q deletion is reported here for the first time.