1/3216. trisomy 4p due to a paternal t(4p-;16p ) translocation.A patient is described carrying a duplication 4p12 leads to pter due to a paternal translocation: 46,XY,t(4;16) (p12;p13). Involvement of chromosome No. 16 and the heterogeneity of the clinical picture in cases with dup (4p) are discussed.- - - - - - - - - - ranking = 1keywords = chromosome (Clic here for more details about this article) |
2/3216. Translocation of chromosomes 11 and 22 in choroidal metastatic Ewing sarcoma detected by fluorescent in situ hybridization.PURPOSE: To describe a patient with metastasis of Ewing sarcoma to the choroid and the molecular genetics of the tumor. methods: A 26-year-old woman with metastatic Ewing sarcoma developed large choroidal masses in the left eye and died 2 months later. autopsy of the eyes was performed. Dual-color fluorescent in situ hybridization was used to detect genetic alteration in the ocular tumor with EWS and FLI-1 probes. RESULTS: Histopathology confirmed choroidal metastatic Ewing sarcoma. Molecular analysis showed chromosomal translocation t(11;22)(q24;q12) or EWS/FLI-1 rearrangement in the malignant cells of the eye. CONCLUSIONS: Ewing sarcoma can rarely metastasize to the uvea. Molecular detection of the t(11;22)(q24;q12) translocation in Ewing sarcoma is valuable in the differential diagnosis of small round cell tumors.- - - - - - - - - - ranking = 4keywords = chromosome (Clic here for more details about this article) |
3/3216. Cri du chat syndrome and translocation t(5p--;18p ).Two new cases of "cri du chat" syndrome are reported in sisters aged 2 years and one month, respectively. These cases allowed us to detect a translocation t(5p--;18p ) in the mother and to study the familial segregation of this structural chromosome anomaly. At the same time, results from the dermatoglyphic analysis of the propositi as well as those of the carriers of the translocation are also reported.- - - - - - - - - - ranking = 1keywords = chromosome (Clic here for more details about this article) |
4/3216. diagnosis of disseminated alveolar rhabdomyosarcoma using cytogenetics: case report.The clinical, histologic and cytogenetic features of a patient with the alveolar subtype of rhabdomyosarcoma (RMS) were investigated. The patient presented with a widely disseminated tumour including bone marrow involvement, and was a diagnostic dilemma. The presence of translocation (2;13)(q37;q14), which is strongly associated with alveolar RMS helped make the diagnosis. A review of other published cases confirms the strong association of (2;13) with alveolar RMS. The importance of considering RMS as a differential diagnosis in patients presenting with disseminated tumour as the only finding is stressed. This case also shows how cytogenetic investigation of similar patients may provide a diagnosis.- - - - - - - - - - ranking = 0.00016349743384838keywords = ring (Clic here for more details about this article) |
5/3216. Importance of basophilia in haematopoietic disorders.To the significance of basophilia in haematopoietic disorders, six draw attention to cases have been analyzed. Associated diseases included acute myelogenous leukaemia (AML-M2, M3, M4, and M6), refractory anaemia with excess of blasts (RAEB) and RAEB in transformation (RAEB-T). Two AML cases (M2, M6) were preceeded by myelodysplastic syndromes (MDS). All patients showed greater than 3% basophilia in peripheral blood and bone marrow. basophils were identified successfully by metachromatic staining with toluidine blue in all cases. Three patients (M3, M4, RAEB) presented with lymphadenopathy, suggesting an association with extramedullary involvement. Neutrophil alkaline phosphatase (NAP) activity was significantly reduced in four patients with AML (M2, M3, M4) and RAEB-T. The clinical course was generally unfavourable characterized by short remission duration or disease progression except for the patient with RAEB. Haemorrhage was the main cause of death rather than infection. cytogenetic analysis revealed unique abnormalities involving chromosomes 3q21, 5q31, and 17q11 where the genes for some haematopoietic growth factors or their receptors are located, in addition to t(6;9) and t(15;17).- - - - - - - - - - ranking = 1keywords = chromosome (Clic here for more details about this article) |
6/3216. Delineation of two distinct 6p deletion syndromes.Deletions of the short arm of chromosome 6 are relatively rare, the main features being developmental delay, craniofacial malformations, hypotonia, and defects of the heart and kidney, with hydrocephalus and eye abnormalities occurring in some instances. We present the molecular cytogenetic investigation of six cases with 6p deletions and two cases with unbalanced translocations resulting in monosomy of the distal part of 6p. The breakpoints of the deletions have been determined accurately by using 55 well-mapped probes and fluorescence in situ hybridization (FISH). The cases can be grouped into two distinct categories: interstitial deletions within the 6p22-p24 segment and terminal deletions within the 6p24-pter segment. Characteristics correlating with specific regions are: short neck, clinodactyly or syndactyly, brain, heart and kidney defects with deletions within 6p23-p24; and corneal opacities/iris coloboma/Rieger anomaly, hypertelorism and deafness with deletions of 6p25. The two cases with unbalanced translocations presented with a Larsen-like syndrome including some characteristics of the 6p deletion syndrome, which can be explained by the deletion of 6p25. Such investigation of cytogenetic abnormalities of 6p using FISH techniques and a defined set of probes will allow a direct comparison of reported cases and enable more accurate diagnosis as well as prognosis in patients with 6p deletions.- - - - - - - - - - ranking = 1.0001634974338keywords = chromosome, ring (Clic here for more details about this article) |
7/3216. Human herpesvirus-8 (HHV-8) associated with small non-cleaved cell lymphoma in a child with AIDS.The association of human herpesvirus-8 (HHV-8) with a small non-cleaved cell lymphoma is described in a child with the acquired immunodeficiency syndrome (AIDS) who developed a malignant pleural effusion and radiologic evidence of multiple solid tumors. HHV-8 DNA and Epstein-Barr virus DNA were identified in pleural fluid cells by polymerase chain reaction (PCR) amplification. The serum antibody titer against lytic HHV-8 proteins was 1:640; antibodies to latent HHV-8 proteins were not detected. cytogenetic analysis of malignant cells revealed three abnormal karyotypes sharing the common finding of a t(8;14) translocation. Rearrangement of c-myc was demonstrated by PCR analysis. Oligoclonal JH immunoglobulin bands were found. Insufficient pleural fluid cells were available to permit localization of HHV-8 to malignant cells by in situ hybridization. This malignancy contrasts with HHV-8-associated lymphomas reported in adult patients with AIDS with respect to cell morphology, c-myc translocation, and oligoclonal immunoglobulin gene rearrangement. HHV-8 is associated with a wider spectrum of malignancies than recognized previously.- - - - - - - - - - ranking = 0.00016349743384838keywords = ring (Clic here for more details about this article) |
8/3216. FISH on sperm heads allows the analysis of chromosome segregation and interchromosomal effects in carriers of structural rearrangements: results in a translocation carrier, t(5;8)(q33;q13).Using three-color fluorescence in situ hybridization (FISH) with specific dna probes, we have determined the chromosome segregation pattern of the translocated chromosomes in a human male carrier of a reciprocal translocation, t(5;8)(q33;q13). At the same time, we have assessed the possible interchromosomal effect on pair 21 using dual-color FISH. The segregation results showed that a 45.12% of the spermatozoa analyzed resulted from alternate segregation, 38.31% resulted from adjacent I, 6.97% from adjacent II, and 6.56% from 3:1 segregation. Finally, 1.23% could be either diploid sperm or 4:0 segregation. In both types of adjacent segregations, an excess of products containing short translocated segments (adjacent I) and interstitial regions (adjacent II) were found. Products resulting from the presence of an interstitial chiasma in pair 5 (1.26%), were found much more frequently (P < 0.0001) than those resulting from an interstitial chiasma in pair 8 (0.13%) (evaluated after adjacent II segregation). In 3:1 segregation, the products containing one chromosome were observed more frequently than those containing three chromosomes (P < 0.0001). No evidence of an interchromosomal effect on chromosome 21 was detected, the percentage of disomy 21 being similar to that in the controls (0.23% vs. 0.37%). However, the percentage of diploid sperm (1.18%) was significantly higher (P < 0. 0001) than that in the controls (0.27%). FISH therefore appears to be a useful technique for assessing the percentage of abnormal sperm in translocation carriers. Their application in assisted reproduction centers could offer patients more accurate genetic counseling.- - - - - - - - - - ranking = 9keywords = chromosome (Clic here for more details about this article) |
9/3216. Prenatal finding of a fetus with mosaicism for two balanced de novo chromosome rearrangements.karyotyping of a fetus with mild cerebral ventriculomegaly detected with ultrasound at 23 weeks revealed two apparently balanced structural rearrangements in mosaic form. Using conventional cytogenetics and FISH, the chromosomal constitution was identified as 46,XX,t(3;10)(p13;q21.1),inv(6)(p23q12)/46,XX. A 46,XX chromosome constitution was predominantly present in the skin whereas in the fetal blood the cell line with two balanced chromosome rearrangements was selectively retained. To the best of our knowledge this is the first prenatal case of mosaicism for two de novo balanced structural chromosome rearrangements to be reported.- - - - - - - - - - ranking = 7keywords = chromosome (Clic here for more details about this article) |
10/3216. Jumping translocations involving chromosome 1q in a patient with crohn disease and acute monocytic leukemia: a review of the literature on jumping translocations in hematological malignancies and crohn disease.A 36-year-old man with a 10-year history of crohn disease (CD) presented with gross hematuria and blasts in his peripheral blood. A chromosome analysis revealed one normal cell and 33 abnormal cells. The stem line was 47,XY, 8. The multiple side lines also had a jumping translocation between chromosome 1q31-32 and 4, 8, 10, 17, and 18 terminal regions. A cytogenetic, morphologic, and immunophenotypic analysis of a bone marrow aspirate and biopsy demonstrated acute myeloid leukemia of monocytic lineage, AML-M5b. In this paper are reviewed (a) the unusual and rare phenomenon of jumping translocations in hematological malignancies and (b) leukemia in CD.- - - - - - - - - - ranking = 6keywords = chromosome (Clic here for more details about this article) |
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