Topic
Ring chromosome
About: Ring chromosome is a research topic. Over the lifetime, 1546 publications have been published within this topic receiving 31061 citations. The topic is also known as: supernumerary circular chromosome.
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TL;DR: The present paper reports on one further case of a ring chromosome replacing one of the chromosomes of the C-group in a mentally deficient male.
Abstract: Ring chromosomes in association with different congenital anomalies have been described in a number of cases (see the review by Varela and Sternberg, 1969). A ring chromosome involving a group-C chromosome in males has only been described in three cases as far as we know: one by Turner et al (1962), and two by Atkins et al (1966). The present paper reports on one further case of a ring chromosome replacing one of the chromosomes of the C-group in a mentally deficient male.
17 citations
TL;DR: A 6 month old patient is reported with a ring chromosomes 18 confirmed by cytogenetic studies and in situ hybridisation and her clinical features were similar to previous cases of ring chromosome 18 syndrome.
Abstract: A 6 month old patient is reported with a ring chromosome 18 confirmed by cytogenetic studies and in situ hybridisation. Her clinical features were similar to previous cases of ring chromosome 18 syndrome. The ring chromosome was inherited from the phenotypically and mentally normal mother with a mos 46,XX/47,XX, + r(18) karyotype.
17 citations
TL;DR: A patient with acute myelomonocytic leukemia is described in whom cytogenetic analysis revealed trisomy 4 associated with a ring chromosome and the possibility of a subclinical myelodysplastic syndrome preceding the onset of AML is discussed.
Abstract: We describe a patient with acute myelomonocytic leukemia (AMML) in whom cytogenetic analysis revealed trisomy 4 associated with a ring chromosome. In addition, in a cytogenetically unrelated clone, trisomy 8 and 5q- abnormalities were detectable. The possibility of a subclinical myelodysplastic syndrome preceding the onset of AML is discussed on the basis of the morphological and cytogenetic findings.
17 citations
TL;DR: Dose-response curves for X rays and neutrons show that cell reproductive death and changes in flow karyotypes result from damage, induced with a similar relative biological effectiveness.
Abstract: V79 Chinese hamster cells were irradiated in G0 phase with 200 kV X rays or 14 MeV neutrons, and dose-response curves were determined for three end points: (1) chromosome damage detected by flow cytometric analysis of chromosomes isolated from metaphase cells in irradiated cultures; (2) loss of clonogenic capacity; and (3) induction of dicentric, tricentric, and ring chromosomes. The changes observed in the flow karyotypes from irradiated cultures were quantitatively evaluated by computer analysis. Estimates of the frequencies of chromosome lesions were derived from an analysis of the flow cytometric measurements by means of a comparison with model calculations simulating the effect of chromosome changes on flow karyotypes. The results indicate that lesions assayed by flow cytometry occur three times more frequently than lethal lesions, while the chromosomal structural changes detected by microscopic analysis were about 10 times less frequent than the lesions detected by flow cytometry. Dose-response curv...
17 citations
Journal Article•
TL;DR: A microscopic focus of gonadoblastoma was found in a patient with gonadal tlysgenesis and the karyotype was 45,×O/46,XYr, the second reported case of Y ring chromosome.
17 citations