X;14 translocation:an exception to the critical region hypothesis on the human X-chromosome.

We report on a family in which an X;14 translocation has been identified. A phenotypically normal female, carrier of an apparently balanced X-autosome translocation t(X;14)(q22;q24.3) in all her cells and a small interstitial deletion of band 15q112 in some of her cells had 2 offspring.

Ecto-5'-nucleotidase. I. Expression in human normal and neoplastic lymphoid cell lines representing sequential stages of B-cell differentiation.

The possible association of ecto-5'-nucleotidase (5'-NT) with differentiation of B-cells was explored with the use of normal and neoplastic lymphoblastoid cell lines representing sequential stages of B-cell maturation. There was no relationship between patterns of enzyme expression in the cell lines and immunoglobulin (Ig) secretion, chromosome constitution, proliferative rate, cell volume, or the presence of B1 and B2 antigens. Pre-B-cell lines, which were negative for surface Ig or Ig secretion but positive for cytoplasmic mu-chains, showed the presence of 5'-NT, whereas 9 of 11 lymphoma cell lines, Burkitt's or non-Burkitt's type, both secreting and nonsecreting, did not exhibit enzyme activity.

Expression of an X-linked muscular dystrophy in a female due to translocation involving Xp21 and non-random inactivation of the normal X chromosome.

A young female was diagnosed as having X-linked muscular dystrophy of the Duchenne type. Chromosome studies, including trypsin-Giemsa banding, Quinacrine fluorescence, and nucleolus organizer region (NOR) silver staining revealed an X-autosome reciprocal translocation t(X;21) (p21;p12). Utilizing both [3H] thymidine autoradiography and the BrdU-Hoechst 33258-Giemsa technique, lymphocytes and fibroblasts were found to show a preferential inactivation of the normal X suggesting the presence of a single mutant gene on the translocated X.

Endocrine, cytogenetic and psychometric features of patients with X-isochromosome 46, X, i(Xq) Turner's syndrome: a preliminary study in nine patients.

The 46, X, i(Xq) karyotype of isochromosome for the long arm of the X chromosome has been found to be a frequent structural abnormality in Turner's syndrome. To characterize the endocrine, metabolic, and psychometric features of such patients, nine subjects, aged 12 to 49 years, with this specific cytogenetic abnormality were studied. Although eight of the nine patients had a mosaic chromosome pattern, five had a greater proportion of i(Xq) cells than XO cells, and in four of these the proportion of i(Xq) cells was over 80%.

Dic(21;21) in a Down's syndrome child with an unusual chromosome 9 variant in the mother.

A child with characteristic clinical features of Down's syndrome and raised red cell SOD-1 activity was found to have, in addition to a single chromosome 21, a reverse dicentric tandem translocation of two No 21s with dual NORs and C band regions. The breakpoints on the chromosomes involved in the translocation were at the most distal end of the long arms (21q223). The phenotypically normal mother carried a rare variant of a chromosome 9.

Evidence for the inheritance of silver-stained nucleolus organizer regions.

The inheritance of nucleolus organizer regions (NORs) was investigated by examining the degree of silver-staining in individual acrocentric chromosomes in two successive generations. The study was undertaken in six Down's syndrome children and their respective parents. Quinacrine fluorescent polymorphisms were used to identify individual acrocentrics and to determine which of the child's acrocentrics were informative as to parental homologue of origin.

[Correlation between the frequency of HL-A antigens and antigens of the P system in the population of Serbia].

We studied the correlation between the antigens of the P system and the antigens and haplotypes of the HLA system in 334 nonrelated persons and 46 chosen families consisting of 166 members. On our material we found a distinct linear correlation between the antigens of the segregant serie A and especially of the segregant serie B and the P antigen of the blood groups. The correlation between the association of the antigens of series A and B and the antigens of the P system same as between the most frequent HLA haplotypes and the antigens of the P system, is also distinct.

[HLA system antigens in Hodgkin's disease in children].

The authors investigated HLA antigens in 11 children treated of Hodgkin's disease and compared them with 540 healthy nonrelated persons. Antigens HLA-A2, HLA-A9 and HLA-A10 were found in 5 treated children (45.4%).

[Analysis the incidence of HL-A-system antigen incidence in children treated for acute lymphoblastic leukemia].

Correlation between some histocompatible antigens and leukemia has been described both in men and in experimental animals. In 1970 Walford found an exceptionally high association between the illness and antigens of the HLA system in children with acute leukemia who had long life duration. It is therefore supposed that these antigens should not be associated with predispositional factors of the illness, instead, they are more likely to have influence over the course of the illness itself.

[Correlation between the presence of cytotoxic anti-HL-A antibodies in the clinical course of hemolytic disease of the newborn infant due to anti-Rh (D) or immune anti-A/B erythrocyte antibodies].

In a retrospective study the simultaneous influence of catotoxic HL-A antibodies on the clinical course of 60 cases of infants affected by Haemolytic disease on the Newborn due to anti Rh (D) or immune anti A/B antibodies, is shown. In all cases the treatment was by exange transfusion. In the group of infants in whose cord blood anti HL-A antibodies were found Exange transfusion had a weak efect so that it had to be repeated in 96 per cent of cases.

[Occurrence of cytotoxic anti-HL-A antibodies in female patients sensitized to Rh antigens].

The frequency of sentization to HL-A system antigens in the categories of Rh-sentized patients was studied, considering the observation that in this category the precentage of senzitization to the system of transplantation antigens is much higher than in other groups. A total of 211 samples of sera of Rh-sensitized patients were examined of which 127 were sensitized to the HL-A system at the same time, while the remaining 74 showed absence of HL-A antibodies. For work the technique of Indirect antihuman globulin test was used (for Rh-sentization) while for HL-A system sensitization examination, the Two-stage microlymphocytotoxicyty method of Terasaki, modified by Dausset, was used.

Destructive forms of renal tuberculosis.

The incidence of renal tuberculosis has declined slowly in recent years, but its development has also changed. There are silent forms with few symptoms of spread and without very great bladder pain; nevertheless these forms can be very destructive, and even on first presentation may show a destroyed kidney. Our Urological Clinic in Belgrade treated 1,890 patients during a period of 23 years.