Cases reported "Translocation, Genetic"

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1/4579. Partial trisomy 9q--chromosomal syndrome.

    The clinical features consisting mainly of enophthalmos, beaked nose, narrow palpebral fissures, receding chin, long fingers and toes, typical for chromsomal syndrome or partial trisomy 9q, were confirmed in a new case.
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2/4579. Partial trisomy 20p derived from a t(18;20) translocation.

    Two sibs show a strikingly concordant syndrome of congenital anomalies and G-banding reveals that each has partial trisomy 20p resulting from a t(18;20) translocation. They resemble other cases of partial trisomy 20p in some respects but also differ in some ways. Their normal sib, mother, and half-aunt are balanced heterozygotes for the t(18;20) translocation. The segregation of the balanced translocation in this family is associated with an extremely poor reproductive record. The segregation pattern closely parallels that of a t(13;20) translocation in a family described by Carrel et al. (1971) and Francke (1972). The similarity of segregation patterns is predictable on the basis of probable pachytene configurations, but the dissimilarity of phenotypes between families is not readily explained.
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3/4579. 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.
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4/4579. Partial monosomy 22 as the result of an unbalanced translocation 5:22 in a patient with cri-du-chat syndrome.

    A 2-year-old boy with features suggestive of cri-du-chat syndrome had a complex karyotype: 45,XY,--22,5p--,t(5p:22q). Clinical symptoms were catlike cry in early infancy, severe mental and motor retardation, failure to thrive, hypertelorism, antimongoloid slant of the eyes, ptosis of the eyelids, epicanthus, micrognathia, dermatoglyphics abnormalities, and partial syndactyly between 2nd and 3rd toes.
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5/4579. 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.
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ranking = 1.695652173913
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6/4579. 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.
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7/4579. Acute lymphoblastic leukemia with the (8;14)(q24;q32) translocation and FAB L3 morphology associated with a B-precursor immunophenotype: the Pediatric Oncology Group experience.

    Five pediatric patients are described with acute lymphoblastic leukemia (ALL) who at presentation had clinical findings suggestive of B cell ALL and lymphoblasts with FAB L3 morphology and the characteristic t(8;14)(q24;q32). However, the leukemia cells of all five patients failed to express surface immunoglobulin (sIg) and kappa or lambda light chains. Based on initial immunophenotyping results consistent with B-precursor ALL, four of these cases were initially treated with conventional ALL chemotherapy. These four patients were switched to B cell ALL treatment protocols once cytogenetic results became available revealing the 8;14 translocation. The fifth case was treated with B cell ALL therapy from the outset. Four of the five patients are in complete remission at 64, 36, 29 and 13 months from diagnosis. One patient relapsed and died 6 months after initial presentation. These five unusual cases with clinical B cell ALL, the t(8;14), and FAB L3 morphology, but negative sIg, demonstrate the importance of careful and multidisciplinary evaluation of leukemic cells with morphology, cytochemistry, immunophenotyping and cytogenetic analysis. Future identification of patients with this profile will allow us to expand our knowledge regarding prognostic significance and optimal treatment for this rare subgroup of patients.
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ranking = 8487.0891956464
keywords = leukemia, m
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8/4579. 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.
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ranking = 1.1739130434783
keywords = m
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9/4579. 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).
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ranking = 1.2608695652174
keywords = m
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10/4579. 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.
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ranking = 1.304347826087
keywords = m
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