We studied the relationship of direct karyotypes, determined at diagnosis and remission, to Abelson-related tyrosine kinase activity and the cytogenetic features of erythroid and myeloid colonies derived from remission marrow of six children with acute lymphoblastic leukemia (ALL). These patients had either the characteristic Philadelphia chromosome (Ph1) [t(9;22)(q34;q11)] or cytogenetically s...

Most chronic myeloid leukemia (CML) patients show the Philadelphia chromosome (Ph) arising from the reciprocal t(9;22), but 5-10% present variants of this translocation involving different breakpoints besides 9q34 and 22q11. WE REPORT THE NON SIMULTANEOUS OCCURRENCE OF TWO DIFFERENT TYPES OF PH TRANSLOCATION IN A CML PATIENT: a t(9;22)(q34;q11) standard and a three-way variant t(9;11;22)(q34;p1...

Biochemical studies showed that the proband had half normal activities of IDH1 and RPE, suggesting that she was a heterozygote for both enzymes. The gene for IDH, has been assigned to sub-band 2q33.3 by Narahara et al.4 High resolution GTG and RBA banding analysis showed that the segment 2q32. 1->q34 was deleted in the proband in agreement with their observations. On the other hand, the gene fo...

Malignancies in patients with fragile X syndrome are rarely reported. A 42-year-old man with fragile X syndrome presented with precursor B-cell acute lymphoblastic leukemia (ALL). Cytogenetic analysis showed a stemline 46, XY,t(9;22)(q34;qll) and a sideline 46,XY, t(8;14)(q24;qll), t(9;22)(q34;qll). Molecular analysis of the FMR1 gene showed a neoplastic leukemic clone possessing a full expansi...

The t(9;22)(q34;q11) translocation is found in about 90% of chronic myeloid leukemia (CML) patients. About 5-10% of CML patients have complex variant translocations involving a third chromosome in addition to chromosomes 9 and 22. Herein, we describe a CML-chronic phase male with a complex translocation involving chromosome 16, t(9;22;16)(q34;q11;q24). First, he was treated with interferon-alph...

Approximately 50% of immortal human keratinocyte lines show loss of heterozygosity of chromosome region 4q33-q34, and the reintroduction of chromosome 4 into one such line, BICR 6, causes proliferation arrest and features of replicative senescence. Recently, a candidate gene, mortality factor 4 (MORF4), was identified in this region and sequenced in 21 immortal keratinocyte lines. There were no...

The cytogenetic hallmark of Chronic Myeloid Leukemia (CML) is the presence Philadelphia (Ph) chromosome, which results from a reciprocal translocation t(9;22)(q34;q11). In this report, we describe CML patient with no evidence Ph chromosome but trisomy 8 as single abnormality and typical e14a2 (b3a2) BCR-ABL1 fusion transcript. Fluorescence Situ Hybridization (FISH) analysis revealed an uncommon...