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Biomedical subjects

J Cervenka

Publications and source records attributed to J Cervenka.

At least 109 records · Page 6Linked to original sources
PubMed1978

Centric fusion of autosomal chromosomes in a bitch and offspring.

A fertile Golden Retriever cross had a chromosome number of 77, with 3 large metacentric chromosomes representing the 2 X chromosomes and a centric fusion of 2 autosomes. The known reproductive history of the bitch included litters of 6, 5, 13, and 10 pups during 4 consecutive estrous cycles. A total of 16 pups and their sire were located and karyotyped. The sire and 9 of the pups were of normal karyotype. Seven of the 16 pups were found to be carriers of the translocation. The translocation was determined to be a fusion of chromosomes 13 and 17, utilizing G-banding techniques. Although centric fusion has been reported in dogs with congenital disease, the dogs in the present study were not phenotypically unique or abnormal.

Animals↗
PubMed1977

Familial leukemia and inherited chromosomal aberration.

This communication contributes a family with 12 cases of cancer and two cases of leukemia. Chromosomal analysis was performed on three occasions, 9 months apart. In unaffected first-degree relatives, we have demonstrated high frequency of tetraradial figures: in parents, 1:243 mitoses, and in all first degree relatives, 1:328 mitoses. The rate of chromosomal breakage was moderately elevated in comparison with carefully matched controls, mainly in father (6.17), mother (4.01) and one sister (4.07). G-banded and C-banded karyotypes revealed no structural chromosomal abnormality in relatives of leukemic children. This family is one of five leukemic families investigated. Analogous methods of chromosomal analysis have been employed in all, but chromatid exchange figures and elevated chromosomal breakage were detected only in the presently reported pedigree. It has been postulated that in this family there exists a possible relation between increased incidence of chromatid exchange figures and increased tendency to leukemia.

Adolescent↗
PubMed1977

Elevated sister chromatid exchange rate in lymphocytes of subjects treated with arsenic.

An elevated sister chromatid exchange (SCE) rate was found in the lymphocytes of six patients treated with arsenic. All had stigmata of arsenic use as well as biopsy-proven skin cancers. The arsenic exposed patients had a mean of 14.00 SCE/mitosis while 44 normal controls had a mean of 5.8 SCE/mitosis. Chromosome breakage analysis revealed no difference between the two groups. SCE rate has been shown to be elevated in a variety of systems where cell cultures or experimental animals were exposed to known mutagens and carcinogens. We suggest that the relationship carcinogen exposure-elevated SCE rate-cancer may also be valid in humans treated with arsenic.

Adult↗
PubMed1977

Down syndrome due to partial trisomy 21q.

A patient is reported with a typical Down syndrome phenotype, caused by patrial trisomy of chromosome 21. Based on the present case and data from the literature, it is suggested that the Down phenotype is due to the trisomy of the distal portion of the band (q22) of chromosome 21.

Chromosomes, Human, 21-22 and Y↗
PubMed1977

Sister chromatid exchange in dyskeratosis congenita lymphocytes.

Sister chromatid exchange (SCE) frequency in chromosomes from lymphocytes of a patient with dyskeratosis congenita was 12-2 per mitosis. Our 33 normal controls had a mean of 5-4 SCE per mitosis and 5 patients with Fanconi's anaemia averaged 7-6 SCE per mitosis. The rate of chromosome breakage was only 0-5% in the dyskeratosis congenita patient and 0 to 2-5% in controls, while the Fanconi's anaemia patients showed higher values.

Chromatids↗
PubMed1977

Trisomy 22 with 'cat eye' anomaly.

The case of a 10-month-old girl with an extra G-like chromosome is presented. Quinacrine, trypsin-Giemsa, and reverse banding identified the extra chromosome as no. 22. The phenotype of the patient is unique in that unilateral iris coloboma was observed, unlike the 18 cases of full trisomy 22 already published. This represents the first reported case of full trisomy 22 with this coloboma, or 'cat eye' anomaly, which is usually associated with partial trisomy 22. It is suggested that the use of the term 'cat eye syndrome' be revised. The terms 'partial trisomy 22 syndrome' and 'trisomy 22 syndrome' should be used instead.

Azure Stains↗
PubMed1977

Immunological and chromosomal studies in a patient with Sézary syndrome.

A patient with the small-cell variant of Sézary syndrome was studied before and during treatment with low-dose chlorambucil. He had depressed responses to phytohemagglutinin (PHA) and concanavalin A that returned to normal with clinical improvement. Spontaneously dividing cells were found in the peripheral blood by culturing lymphocytes without PHA for 24 hours. Seventy-two-hour PHA-stimulated lymphocyte cultures revealed predominantly hypodiploid chromosome numbers. Both abnormalities improved during treatment. Lymphocytes that were studied for sister chromatid exchanges had an increased number of exchanges per metaphase. Immunofluorescence studies revealed immunoglobulins and C at the dermoepidermal junction and in the dermal vessel walls. Our findings demonstrate that the depression of mitogen responsiveness that is sometimes seen in Sézary syndrome can be favorably affected by chemotherapy. Likewise, some chromosomal abnormalities may regress during successful therapy. These findings may provide a way of measuring the response to therapy.

Chlorambucil↗
PubMed1977

Properties of cell lines established from transitional cell cancers of the human urinary tract.

Characterization studies have been carried out on eight cell lines (253J, 192B, 639V, 647V, 486P, 575A,743E, and 751G) established from transitional cell cancers of the human urinary tract. Although subtle morphological differences exist among individual lines, each has an epithelial morphology and exhibits multilayering. The doubling times for the cells range from 20 to 56 hr, and at least a 1-to-3 split can be achieved when they are subcultured every 4th day. Karyotypic analysis revealed a hyperdiploid stemline for each cell line, and presence of a Y chromosome was confirmed by Q banding in five of the lines. The tumorigenic nature of the cell lines was demonstrated by their production of tumors in hamsters and confirmed by colony formation in agar. The transitional cell cancer lines were shown to be free of Mycoplasma, and their glucose-6-phosphate dehydrogenase mobility patterns and their Karyotypes prove that they are not HeLa cells.

Animals↗
PubMed1976

Partial trisomy 4q syndrome: case report and review.

This communication contributes an additional case of partial trisomy for the long arm of chromosome 4[46,XX,t(X;4)(Q27;Q25)]. Three generations of the patient's family were karyotyped and her mother and brother were found to be balanced translocation carriers. From the patient's clinical examination and from review of 13 similar cases reported in the literature, the following phenotype emerged: constant features were psychomotor retardation, muscle hypotonia at birth, undescended testes in all males and abnormal auricles, typically with a prominent antitragus. Anomalies of kidneys and other structures of the urinary system were present consistently as probably the most characteristic feature of the syndrome. Over 200 structural anomalies of other systems were reported, many of the common to other autosomal chromosomal syndromes.

Child, Preschool↗