Assuntos
Aberrações Cromossômicas , Cromossomos Humanos Par 12 , Tumor Rabdoide/genética , Tumor Rabdoide/patologia , Neoplasias de Tecidos Moles/genética , Neoplasias de Tecidos Moles/patologia , Biópsia , Citoplasma/ultraestrutura , Antebraço , Humanos , Cariotipagem , Masculino , Pessoa de Meia-Idade , Poliploidia , Tumor Rabdoide/secundário , Neoplasias de Tecidos Moles/secundárioAssuntos
Cromossomos Humanos Par 12 , Isocromossomos , Leucemia Linfocítica Crônica de Células B/genética , Trissomia , Medula Óssea/patologia , Bandeamento Cromossômico , Mapeamento Cromossômico , Feminino , Humanos , Cariotipagem , Leucemia Linfocítica Crônica de Células B/patologia , Pessoa de Meia-IdadeRESUMO
Cytogenetic analysis of bone marrow cells of a 63-year-old male Caucasian patient with polycythemia vera (PV) who developed anemia, thrombocytopenia, and increased granulocytic immaturity revealed a 47, X,der(Y) t(Y;1)(q12;q12),+9 karyotype. The breakpoint in chromosome 1 appeared to map to q12 and not to q21, as has been described in previous reports without FISH confirmation. In the 4 years before this transition the patient was polycythemic and, accordingly, treated with phlebotomy and three short courses of busulfan. The cytogenetic picture observed has been described before in seven patients: three with PV, three with myelodysplasia, and one with Fanconi anemia. In 5/7 cases, like in our patient, the abnormality was observed during transition of the disease into either myelodysplasia or AML.
Assuntos
Aberrações Cromossômicas , Síndromes Mielodisplásicas/genética , Policitemia Vera/genética , Medula Óssea/patologia , Bussulfano/uso terapêutico , Cromossomos Humanos Par 1 , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Masculino , Pessoa de Meia-Idade , Síndromes Mielodisplásicas/patologia , Flebotomia , Policitemia Vera/patologia , Policitemia Vera/terapia , Cromossomo YRESUMO
Cytogenetic analysis of a metastasis of a human testicular germ cell tumor (seminoma) revealed multiple numerical and structural anomalies, including an abnormally banding region (ABR) present on the short arm of one of the chromosome 12 homologs. Fluorescence in situ- and comparative genomic hybridization experiments revealed that the ABR results from the amplification of 12p11.2-p12.1 derived sequences. We speculate that this particular region may harbor gene(s) relevant for testicular germ cell tumor progression.
Assuntos
Aberrações Cromossômicas , Cromossomos Humanos Par 12 , Amplificação de Genes , Seminoma/genética , Neoplasias Testiculares/genética , Adulto , DNA de Neoplasias/análise , Humanos , Hibridização in Situ Fluorescente , Masculino , Seminoma/secundário , Neoplasias Testiculares/patologiaRESUMO
Cytogenetic analysis of unstimulated bone marrow (BM) and peripheral blood (PB) cells of a patient with clinical features of atypical chronic myeloid leukemia (CML) showed t(12;22)(p13;q12) as the sole karyotypic abnormality. Subsequent fluorescence in situ hybridization (FISH) with abl- and bcr-specific cosmids as well as chromosome 12- and 22-specific DNA libraries and Southern blot analysis confirmed that in this patient t(12;22) does not constitute a cryptic Ph variant. Recently, a few very similar cases were reported by other investigations. The possible significance of this translocation as a new cytogenetic marker for nonlymphocytic leukemia is discussed.
Assuntos
Cromossomos Humanos Par 12 , Cromossomos Humanos Par 22 , Leucemia Mieloide Aguda/genética , Translocação Genética , DNA de Neoplasias/análise , Humanos , Hibridização in Situ Fluorescente , Masculino , Pessoa de Meia-IdadeRESUMO
We report a girl with a de novo duplication of the distal part of the long arm of chromosome 3 and review the literature. Our patient had the facial characteristics and many other anomalies of the partial 3q duplication syndrome. As a hitherto undescribed symptom in partial 3q trisomy syndrome, she had microphthalmia. The karyotype of this girl was interpreted as an inverse duplication of the terminal portion of chromosome 3: 46,XX,inv dup (3)(pter-q28::q28-q25::q28-qter). Quantitative hybridisation studies with 3p and 3q probes gave a consistent 3:2 ratio of the relative intensities of the q bands in relation to the p bands between patient and control. This confirmed the presence of a 3q duplication and delineated the location of D3S5 to 3q25-3q28.