Cases reported "Chromosome Fragility"

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1/8. Acral myxoinflammatory fibroblastic sarcoma with unique clonal chromosomal changes.

    Acral myxoinflammatory fibroblastic sarcoma is a rare tumor of the distal extremities. We present the hitherto unreported karyotypic abnormalities of this new entity. The tumor presented as a mass in the dorsum of the foot in a 53-year-old woman and showed the typical virocyte-like and lipoblast-like cells in a myxoid and inflammatory background. cytogenetic analysis revealed a complex karyotype with a reciprocal translocation t(1;10) (p22;q24) in addition to the loss of chromosomes 3 and 13. fluorescence in situ hybridization with the 769E11YAC and BAC 31L5 and 2H23 probes showed the breakpoint to be located proximally to BCL10 and distally to GOT1 genes on chromosomes 1p22 and 10q24, respectively. The presence of these clonal chromosomal changes supports the neoplastic nature of acral myxoinflammatory fibroblastic sarcoma and underscores that it represents a separate entity.
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keywords = complex
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2/8. Acute T-lymphocytic leukemia with Ph1 and 5q-chromosome abnormalities and rearrangements of bcr and TCR-delta genes.

    Almost all cases of Ph1-positive acute lymphocytic leukemia (ALL) have an immature B-cell phenotype and are CD10-positive. A very rare case of Ph1-positive ALL with T-cell features (T-ALL) is presented. Cytogenetic analyses revealed a clone with a Ph1 chromosome and 5q- at diagnosis, and mosaic clones with an additional complex abnormal karyotype at relapse. dna analysis revealed rearrangement of the breakpoint cluster region (bcr) gene with deletion of the 5' side and of the T-cell receptor (TCR) delta gene, without any rearrangement of other immune-associated genes. From the results of immunophenotypic and genetic analyses, the origin of leukemic cells seemed to be an immature T-cell at a very early stage on T-cell ontogeny.
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keywords = complex
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3/8. Non-random chromosomal aberrations in a complex leukaemic clone of a Bloom's syndrome patient.

    Bloom's syndrome is one of the congenital disorders known to have increased frequency of acute leukaemia. The complex cytogenetic findings in the leukaemic cells of a 39-year-old male with Bloom's syndrome are described. These included a translocation t(7;17), missing 7q and 17p, a reciprocal translocation t(4;22); del 3q, del 8q22, del 20q, missing 12 and missing Y. In the same patient a missing Y had been noted 10 years previously in 15% of his peripheral blood lymphocytes.
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ranking = 5
keywords = complex
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4/8. A new chromosomal instability disorder confirmed by complementation studies.

    Two sisters with a complex clinical pattern, including microcephaly, microgenia, defects of skin pigmentation, anal stenosis/atresia, and combined immunodeficiency together with spontaneous chromosomal instability and cellular hypersensitivity to x-rays and bleomycin are described. Complementation studies on heterokaryons proved that the underlying genetic defect is non-allelic with that of patients with ataxia telangiectasia (complementation groups AB-E) and the nijmegen breakage syndrome, but identical with the case described by Conley et al. (1986).
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keywords = complex
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5/8. Variant Ph translocations in chronic myeloid leukemia.

    Variant translocations were found in eight of 142 consecutive patients with Ph-positive, chronic myeloid leukemia encountered in our laboratory during the last decade. Two patients had simple, two-way variant translocations: t(17;22)(p13;q11) and t(16;22)(q24;q11). Both of these patients had an additional translocation involving chromosomes #9: t(7;9)(q22;q34) and t(9;17)(q34;q21), respectively. Complex variant translocations were found in four cases: t(2;9;22)(p23q12;q34;q11), t(3;9;22)(p21;q34;q11), t(9;12;22)(q34;q13;q11q13), and t(13;17;22)(p11;p11q21;q11). In two cases, the only discernable cytogenetic aberration was del(22)(q11). A review of the chromosomal breakpoints involved in this series and in 185 cases of variant Ph translocations previously reported in the literature reveals that a disproportionately large number of breakpoints are located in light-staining regions of G-banded chromosomes. Furthermore, the breakpoints in simple variant translocations are more often located in terminal chromosomal regions, whereas, the breakpoints in complex translocations typically affect nonterminal bands. No obvious correlation was detected between variant Ph translocation breakpoints and either fragile sites, oncogene locations, or consistent chromosome breakpoints in other malignancies.
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keywords = complex
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6/8. Use of fluorescence in situ hybridization to confirm the interpretation of a balanced complex chromosome rearrangement ascertained through prenatal diagnosis.

    A balanced complex chromosome rearrangement (BCCR) involving 3 chromosomes with 4 breakpoints, was identified in a 36-yr-old woman who was studied because her fetus was discovered to have an unbalanced reciprocal translocation (7q;10q). Analysis of high resolution bands and the application of fluorescence in situ hybridization has identified the BCCR as der(7)t(7;10)(q21.13;q23.33)ins(21;7)(q21.3;q11.22q21.13), der(10)t(7;10)(q21.13; q23.33), der(21)ins(21;7)(q21.3;q11.22q21.13). Alternate segregation of the BCCR appears to be favoured, and has resulted in two pregnancies with an unbalanced chromosome constitution.
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ranking = 5
keywords = complex
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7/8. Complex cytogenetic rearrangement in a case of unicameral bone cyst.

    cytogenetic analysis of a unicameral bone cyst surgically resected in an 11-year-old boy revealed a highly complex clonal structural rearrangement involving chromosomes 4, 6, 8, 16, 21, and both 12. These findings reinforce the need for further studies on unicameral bone cysts to verify the frequency and to understand the significance of chromosome anomalies in this type of lesion.
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keywords = complex
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8/8. fluorescence in situ hybridization provides evidence for two-step rearrangement in a masked Ph chromosome formation.

    A chronic myelogenous leukemia (CML) patient with a masked Ph chromosome due to the translocation (9;10;22)(q34;q24;q11) is reported. Banding analysis showed a 9q chromosome typical of standard t(9;22)(q34;q11), and fluorescence in situ hybridization studies confirmed the involvement of a chromosome 10 in the masked Ph formation and also the presence of 3' ABL-dna sequences in the der(22). This complex rearrangement could be explained by two consecutive translocations: the first, a standard t(9;22) (q34;q11), the second, a translocation between a chromosome 10 and the der(22) with a breakpoint in sequences derived from chromosome 9 telomeric to the ABL gene. By reverse transcription polymerase chain reaction (RT-PCR), we studied the BCR/ABL transcript junction: a chimeric m-rna b3-a2, indicating a breakpoint within the major breakpoint cluster region, was found.
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keywords = complex
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