We report on a 2 1/2 year old girl who is dysmorphic, developmentally delayed, and mosaic for an unbalanced, de novo translocation between chromosomes 3 and 15. The karyotype from peripheral blood lymphocytes is 46,XX (50) and the karyotype from skin fibroblasts is 46,XX (28)/46,XX,der(15)t(3;15)(q11;p11) (23). The mechanism for the generation of this unbalanced, de novo translocation is discus...

Although chronic myeloid leukemia (CML) is characterized by the Philadelphia (Ph) chromosome, which is the result of t(9;22) (q34;q11) or its variants, 10%-20% of cases have additional cytogenetic abnormalities. The most common additional abnormalities are loss of the Y chromosome, +8, +Ph, and i(17q). Since these additional chromosome abnormalities are signs of disease progression, it is impor...

Chromosomal abnormalities are one of the major causes of infertility in man and woman. A couple with history of recurrent spontaneous abortion (RSA) was referred to our laboratory for chromosomal analysis. The analysis revealed normal 46,XY karyot ype in male and a novel balanced translocation 46,XXt(4;20)(q11;p13) in female partner. This translocation with breakpoints has not been reported in ...

used for thyroid disease could generate a chromosomal aberration, particularly (t 9,22) (q34 q11) developing, with a long latency, CML or in this case Ph+ ALL. Although the risk of leukemia after 131I exposure cannot be considered a contraindication to 131I therapy, strict hematologic follow-up of patients submitted to 131I treatment is recommended. Retrospective analysis of 131I exposure in la...

Sir, Sézary cell leukemia (SCL) has been described as a very rare variant of T-prolymphocytic leukemia (TPLL)1-4 with 11 cases reported. T-PLL is usually an aggressive, mature T-cell disorder accompanied by progressive lymphocytosis, splenomegaly, skin lesions and poor outcome.4 However, a few cases with an indolent course have been reported.3 Prolymphocytes of T-PLL show an irregular nuclear s...

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...