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A girl with sporadic unilateral retinoblastoma and mental retardation has an interstitial deletion in the long arm of chromosome 13. Her mother has a paracentric inversion of one chromosome 13; the deleted chromosome 13 in the daughter is derived from the mother's normal chromosome 13.
By using the Giemsa banding technique we identified three patients with chromosome deletion 4p-. All had anterior segment anomalies, exotropia, blepharoptosis, antimongoloid palpebral fissures, hypertelorism, and disk abnormalities. One patient (Case 1) had Rieger's anomaly. Some clinical features in patients with 4p- are similar to those in patients with chromosome deletion 5p-, cri-du-chat syndrome, although 4p- individuals do not have the distinctive cry. The ocular features which distinguish 4p- from other deletions include normal tearing, some degree of blepharoptosis, and the preponderance of anterior segment signs.
A woman in the fourth year of agnogenic myeloid metaplasia was found to have partial deletion of the long arm of chromosome 20 [46,XX,del(20)(q11)] in mitoses of presumably immature myeloid cells from unstimulated cultures of peripheral blood and bone marrow. Cytogenetic studies of peripheral blood lymphocytes showed a normal female karyotype.
Conidia, derived from a strain of Aspergillus nidulans known to carry a specific chromosomal duplication, were irradiated. The duplicated segment had genetic markers, which, when eliminated from the genome, allowed the easy detection of deletion mutants. Survival curves derived following 15 MeV electron and gamma-ray irradiation were characterised by the presence of an appreciable shoulder, whilst 50 kvp X-rays gave a much smaller shoulder. Irradiation with beta-particles and alpha-particles gave rise to exponential survival curves. The RBE values for these radiations, based on the D37 value were for gamma-rays, 1.0, 15 MeV electrons 1.0, 50 kvp X-rays 1.9, beta-particles 2.1 and alpha-particles 3.4. With the exception of gamma-rays the radiations described were compared with respect to their ability to induce chromosomal deletions. When the number of deletants amongst survivors was plotted against dose, a linear relationship was found for electrons, X-rays and beta-particles. The response recorded for alpha-particles was essentially linear but with a biphasic component. The RBE values for the radiations, based on a value of unity for 15 MeV electrons were as follows: X-rays 1.3, beta-particles 0.8, alpha-particles above 7.5 krad 2.3 and below 7.5 krad 3.5. When these same data were re-plotted with number of deletants amongst survivors against log survival, electrons appeared the most efficient radiation at producing deletants amongst survivors, with an "m value" of 283 X 10(-5). Tritiated water was least efficient, the corresponding value being 182 X 10(-5). The number of deletants per 10(4) conidia plated, when plotted against dose yielded a curve which increased to a peak and then decreased linearly for all radiations. The peaks for electrons, X-rays and alpha-particles each had a value of about 14 deletants per 10(4) conidia plated and the peaks roughly corresponded with the point at which the survival curve became exponential and was clearly indicative of the accumulation of sub-lethal damage. However, for beta-particles the peak had a value of 7 deletants per 10(4) conidia plated. A non-DNA target has been implicated for cellular death following beta-particle irradiation.
An interstitial deletion of chromosome 13 with breakpoints at 13q22 and 13q32 is presented. The clinical findings associated with this deletion are discussed in relation to the correlations of specific chromosomal bands with constellations of congenital defects as described by Niebuhr and Ottosen (1973), Niebuhr (1977). Lewandowski and Yunis (1975), and Noel et al. (1976).
Deletions in the rpoBC region have been transferred to phage lambda and characterized in detail by genetic, structural, and functional tests. We thus extend and confirm knowledge of the organization of this part of the chromosome. The new phages are useful tools for studying the genes for the bacterial transcription and translation machinery.
Chromosomes of mouse myelocytic leukemias that developed in 7 irradiated mice, 3 C3H/He males, 1 RFM female, and 3 RFM males were analyzed with chromosome-banding techniques. Chromosomes No. 2 were partially deleted in 6 of the 7 mice. Although the deleted No. 2 chromosomes varied in size in the 6 mice, one common characteristic was noted in all these deletions: A segment lying between a certain band in the region 2C and a band in the region 2E, including the whole region 2D, was missing. Another consistent abnormality was an addition or a loss of the Y-chromosomes in the fraction of cells in all 6 males. In addition to these consistent abnormalities, various chromosomes had structural abnormalities. The RFM female, which did not have the abnormal No. 2 chromosome, had abnormalities in chromosomes No. 3, 4, 11, 12 and 15 and in the X-chromosome. Of the 20 chromosome pairs, only such chromosomes as No. 1, 5, 8, 14, 17, and 19 and the Y-chromosome did not have the structural abnormalities. The possible role of the partial deletion of the No. 2 chromosome was considered in relation to the development of mouse myeloid leukemias.
We have identified a partial deletion of the long arm of chromosome 7 in a newborn baby boy. His major anomalies were microcephaly, synbrachydactyly, diastisis recti, hypospadias, short neck, and widely spaced nipples.
This report deals with a new syndrome characterized by refractory anemia, an aberration of chromosome 5 (deletion of the long arm) and the subsequent appearance of acute myeloid leukemia. The results stress the importance of chromosomal studies in cases of unclear, long-lasting and therapy-resistant anemia, since they may allow the early recognition of the development of acute leukemia.
A further instance of the new hematologic entity of pure red cell hypoplasia with deletion of the the long arm of a chromosome 5(5q-) was seen in a 59-year-old white male. Examination of the bone marrow showed depressed erythroid cells with normal granulocytic and megakaryocytic precursors. Chromosomal analysis showed deletion of a chromosome 5 without any apparent translocation. This karyotype may be associated with acute leukemia.
A child with aniridia, multiple anomalies, severe failure to thrive, and severe psychomotor retardation is shown to have a syndrome similar to, though more severe than, other patients with overlapping deletions of the short arm of chromosome 11 (Pediatrics 64:604, 1978). Her deletion (46,XX,del [11p] [pter yields p14::p11.3 yields qter]) was derived from her mother, who has a chromosome 11 shift (46,XX,der [11] [pter yields p14::p11.3 yields q22::p14 yields p11.3::q22 yields qter]). The significance of del (11p) in the aniridia-Wilms' tumor association is discussed, and the del (11p) basis for aniridia is compared with other genetic bases for aniridia.
The clinical findings in a child with a terminal deletion (1) (q42 leads to qter) is described and compared with three cases with a similar chromosomal anomaly.
A girl, who died at 25 days of age, was found to have a partial monosomy due to a 11q23 leads to 11qter deletion. The main clinical findings were trigonocephay, facial dysmorphia, and congenital heart disease. A review of developmental and dysmorphic features of the seventeen recognized cases is presented.
This communication describes an infant with growth and psychomotor retardation and severe congenital malformations, who was found to have an interstitial deletion of the long arm of chromosome 8: 46,XY,del(8) (q13q22). Comparison with the only other previously reported patient with a deletion of a similar chromosomal segment suggested that deletion of the long arm of chromosome 8 may constitute a clinically recognizable syndrome.
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BACKGROUND: The present study investigates implications of a sub-chromosomal deletion in Leishmania infantum strains, the causative agent of American Visceral Leishmaniasis (AVL). Primarily found in New World strains, the deletion leads to the absence of the ecto-3'-nucleotidase/nuclease enzyme, impacting parasite virulence, pathogenicity, and drug susceptibility. The factors favoring prevalence and the widespread geographic distribution of these deleted mutant parasites (DEL) in the NW (NW) are discussed under the generated data. METHODS: We conducted phenotypic assessments of the sub-chromosomal deletion through in vitro assays with axenic parasites and experimental infections in both in vitro and in vivo models of vertebrate and invertebrate hosts using geographically diverse mutant field isolates. RESULTS: Despite reduced pathogenicity, the DEL strains efficiently infect vertebrate hosts and exhibit relevant differences, including enhanced metacyclogenesis and colonization rates in sand flies, potentially facilitating transmission. This combination may represent a more effective way to maintain and disperse the transmission cycle of DEL strains. CONCLUSIONS: Phenotypic assessments reveal altered parasite fitness, with potential enhanced transmissibility at the population level. Reduced susceptibility of DEL strains to miltefosine, a key drug in VL treatment, further complicates control efforts. The study underscores the importance of typing parasite genomes for surveillance and control, advocating for the sub-chromosomal deletion as a molecular marker in AVL management.
We describe the spontaneous induction of deletions by MR elements at the l(2)gl, net, pr and cn loci. The frequent induction of l(2)gl deletions mimics the high frequency of l(2)gl alleles found in wild populations of D. melanogaster. We suggest that these and other data that we present militate for the conclusion that, in the wild, autonomous MR elements occur and function as mutators. We contend that MR elements are not simply the by-products of hybridization between wild and laboratory strains.
Preliminary data show adriamycin (AM) induces chromosomal structural changes and division delay in human peripheral lymphocytes. Cells treated for one hour with 0.01, 0.03, 0.05 and 0.10 mug/ml AM show chromatid lesions mainly breaks and deletions. Chromosome type lesions and chromatid exchanges were less frequent even in cells with the highest percentage of aberrations. Dicentric chromosomes were very rare and were scored only in cells treated with higher concentrations (0.10 mug/ml) and recovered 24 hour post-treatment. Based solely on cytologic evidence G1 and S phase cells appear to be more sensitive to adriamycin than G2 phase cells.