Fibrinogen Bastia (gamma 318 Asp-->Tyr) a novel abnormal fibrinogen characterized by defective fibrin polymerization.

A new congenital dysfibrinogen, Fibrinogen Bastia, was discovered in a 20-year-old woman with no clinical symptoms. The plasma thrombin-clotting time was severely prolonged. The functional plasma fibrinogen concentration was low (0.2 mg/ml), whereas the immunological concentration was normal (2.9 mg/ml). Purified fibrinogen Bastia displayed a markedly prolonged thrombin-clotting time related to a delayed thrombin-induced fibrin polymerization. Both the thrombin-clotting time and the fibrin polymerization were partially corrected by the addition of calcium ions. The anomaly of fibrinogen Bastia was found to be located in the gamma-chain since by SDS-PAGE performed according to the method of Laemmli two gamma-chains were detected, one normal and one with an apparently lower molecular weight. Furthermore, analysis of plasmin degradation products demonstrated that calcium ions only partially protect fibrinogen Bastia gamma-chain against plasmin digestion, suggesting that the anomaly is located in the C-terminal part of the gamma-chain. Sequence analysis of PCR-amplified genomic DNA fragments of the propositus demonstrated a single base substitution (G-->T) in the exon VIII of the gamma chain gene, resulting in the amino acid substitution 318 Asp (GAC)-->Tyr (TAC). The PCR clones were recloned and 50% of them contained the mutation, indicating that the patient was heterozygous. These data indicate that residue Asp 318 is important for normal fibrin polymerization and the protective effect of calcium ions against plasmin degradation of the C-terminal part of the gamma-chain.

A dicentric t (22;22) translocation associated with recurrent abortions and a normal fetal karyotype

Descreve-se uma translocaçäo dic (22;22) (pter;pter) em uma paciente que apresentou abortos espontâneos múltiplos. A constituiçäo cromossômica normal de un dos fetos abortados provavelmente resultou da dissociaçäo deste cromossomo translocado

[Action of amsidine on the evolution of lymphocyte cultures and on the structure of human metaphase chromosomes]. / Action de l'amsidine sur l'évolution de cultures lymphocytaires et sur la structure des chromosomes métaphasiques humains.

Chromosomic alterations can be observed after the effect of a antimitotic amsidine on metaphases of cultured human lymphocytes: gaps, breaks, exchange figures, deletions, rings. Moreover we notice, among these cells, particular lines of big sized lymphoplasmocytoid cells, whose rate is abnormally high when compared to reference cultures.

Translocation t(3;20) associated with thrombocythemia in Ph-positive CML.

A patient with Philadelphia (Ph) chromosome positive chronic myelocytic leukemia is described who also developed an abnormality of chromosome #3, i.e., t(3;20)(p21;p13), in blast crisis. This abnormality may be connected with the advent thrombocythemia. The disease was a thrombopenia in the initial phase.

[Cytogenetic study of 20 cases of refractory anemia]. / Etude cytogénétique de 20 cas d'anémies réfractaires.

The myelodysplastic syndromes are a group of hematological disorders not yet clearly defined. The authors describe the chromosomal aspects of 20 cases observed in the region of Clermont-Ferrand in comparison with the bibliographical data.

[Characterization of chromosomal aberrations induced in man by various antimitotic agents]. / Typologie d'aberrations chromosomiques induites chez l'Homme par différents antimitotiques.

Six antitumoral drugs were tested in human lymphocytes cultures. Our observations pointed out specific abnormalities beside more usual chromosomal aberrations. These lesions are mainly telomeric and chromatidic fusions, chromomerisations and despiralizations. We present an interpretation of these abnormalities.

[Chromosomal banding by the action of two compounds: sodium glycocholate and arginine]. / Marquage chromosomique par action de deux composes: le glycocholate de sodium et l'arginine.

In human lymphocytic metaphasis chromosomes sodium glycocholate induces a banding of chromatids and an intense apparently perichromatic labelling, reproducible on the same points of various chromosomal pairs. Arginine makes centromeric heterochromatin visible.

Cytogenetic studies in a case of T-cell prolymphocytic leukemia.

The authors describe cytogenetic aberrations observed in a case of T prolymphocytic leukemia. C11 deletion (q14) B5 deletion (pter), D14q +, E20 trisomy, and two markers are the main anomalies of the complement.

Chronic myelogenous leukemia (CML) with translocation (8;22): a new variant.

A case of chronic myelogenous leukemia (CML) in a young woman with a new variant Ph1-translocation--i.e., t(8;22) (q24;q12)--is described. The clinical and biological aspects of the disease did not seem to differ from those of the usual cases of CML.

[Burkitt's type acute lymphoblastic leukemia. Cellular phenotype and chromosome abnormally (author's transl)]. / Leucémie aiguë lymphoblastique de type Burkitt. Etude du phénotype cellulaire et d'anomalies chromosomiques.

A 13 year-old boy presented with Burkitt's type acute lymphoblastic leukemia (B-ALL). Studies of immune markers on his lymphoblasts suggest they have reached a fairly advanced level of differentiation with in the B-cell lineage. Presence of 1q+ and 8q- chromosomes suggest an unusual (1;8) translocation and is in agreement with current concepts concerning the frequent chromosome 8 changes in B-ALL.