22 Result(s)
within
A. Aurias
Biomedicine
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Article
Systematic analysis of 95 reciprocal translocations of autosomes
The statistical analysis of 95 cases of reciprocal translocations involving autosomes detected among about 10,000 patients studied with the R-banding technique gives the following information:
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Article
The 11q;22q translocation: A European collaborative analysis of 43 cases
Translocation between the long arms of chromosomes 11 and 22 is usually detected in offspring with an unbalanced karyotype following a 3:1 disjunction resulting in “partial trisomy.” Since by the end of 1976 i...
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Article
Non random position of metaphasic chromosomes: A study of radiation induced and constitutional chromosome rearrangements
The rearranged chromosomes derived from reciprocal translocations or dicentric-acentric formations, observed 48 h after their induction by irradiation at Go phase, have a clear tendency to be closer together t...
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Article
Assignment of human uroporphyrinogen I synthase locus to region 11qter by gene dosage effect
Recently Meisler et al. (1980) reported the results of mouse/human somatic cell hybrid studies which indicated that the locus for human uroporphyrinogen I synthase (UPS) (EC 4.3.1.8) maps to chromosome 11. To ...
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Article
The cell cycle of lymphocytes in Fanconi anemia
BrdU-incorporation techniques were used to study the cell cycle in 18 cases of Fanconi's anemia (FA).
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Article
Tandem translocation t(14;14) in isolated and clonal cells in ataxia telangiectasia are different
In a patient affected by ataxia telangiectasia (AT), an invading clone with a t(14;14) was found in PHA-, but not in pokeweed-stimulated, lymphocytes. With high resolution R-banding, the proximal breakage was ...
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Article
The 11q;22q translocation: A collaborative study of 20 new cases and analysis of 110 families
Following a previous collaborative study (Fraccaro et al. 1980), 20 new cases of 11q;22q translocation are described. Twelve families were ascertained through an unbalanced carrier of the translocation and eig...
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Article
Inversion (14)(q12qter) or (q11.2q32.3): The most frequently acquired rearrangement in lymphocytes
In a large study of chromosome rearrangements occurring in human lymphocytes from normal subjects, inv (14)(q12qter) or (q11.2q32.3) is found to be the most frequent, affecting 0.15% of mitoses. The same inver...
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Article
New data on clonal anomalies of chromosome 14 in ataxia telangiectasia: tct (14;14) and inv(14)
From a series of 53 patients with ataxia telangiectasia, two large clones with a t tan or tct(14;14) and two with an inv(14) were observed among phytohaemagglutinin (PHA)-stimulated lymphocytes. Smaller clones...
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Article
A possible new type of chromosome rearrangement: telomere-centromere translocation (tct) followed by double duplication
The reassessment of a case of complex interchromosomal rearrangement after breakage at centromeric and telomeric regions, and the comparison with four other independently published cases suggested the existenc...
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Article
Probable involvement of immunoglobulin superfamily genes in most recurrent chromosomal rearrangements from ataxia telangiectasia
From the chromosomal analysis of 9461 lymphocytes from 57 patients affected by ataxia telangiectasia, it is concluded that bands 7p14, 7q35, 14q12, and 14qter, which are frequently recombined in rearrangements...
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Article
The rate of chromosome breakage is age dependent in lymphocytes of adult controls
Chromosome breaks and chromatid-type lesions from a prospective study of more than 1000 lymphocyte karyotypes from each of six controls were analysed. These lesions were more frequent in older (75 years old on...
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Article
Down syndrome with duplication of a region of chromosome 21 containing the CuZn superoxide dismutase gene without detectable karyotypic abnormality
We report the case of an 18-month-old boy with many typical Down syndrome features but a normal cytogenetic analysis. High-resolution banding techniques on lymphocytes and fibroblasts of the propositus and his...
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Article
Proposal for a scoring of the quality of the banding of chromosomes
We propose an objective scoring of the quality of the banding of mitoses based on the number of bands (B), the length (L), and the width (W) of chromosome 7 in metaphase as used in the formula
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Article
Isoacentric and isocentric chromosomes originating after deletions of human chromosomes
The analysis of a sample of 100 isoacentric (IA) and isocentric (IC) chromosomes, which had originated from spontaneous or radiation-induced deletions in human lymphocytes, is reported. IC and also IA have a s...
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Article
Recurrent t(11;22) breakpoint map** by chromosome flow sorting and spot-blot hybridization
The breakpoint of the recurrent t(11;22) translocation, one of the most frequent chromosome anomalies encountered in human population, always involves bands 11q23.2 and 22q11.2. The involvement of the Cλ locus...
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Article
Acquired chromosome rearrangements in human lymphocytes: effect of aging
A prospective study of structural rearrangements occurring in normal lymphocytes was carried out. For each of two newborns and four young and two old adults, about 1000 metaphases from 72-h and 120 from 48-h c...
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Article
In situ hybridization of PCR amplified inter-Alu sequences from a hybrid cell line
Polymerase chain reaction amplified products promoted by oligonucleotides complementary to the highly repetitive human Alu sequence can be used for in situ hybridization on metaphase chromosomes to investigate...
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Article
Routine diagnosis of DiGeorge syndrome by fluorescent in situ hybridization
In a series of ten patients affected by DiGeorge syndrome, we screened, by high resolution banding and fluorescent in situ hybridization of a cosmid probe, for microdeletions associated with this syndrome. In ...
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Article
Precise localization on chromosome 12 of the ATF-1 gene by fluorescence in situ hybridization
The ATF-1 gene encodes for a transcription factor normally regulated by cAMP (Hai et al. 1989, Yoshimura et al. 1990). Recently, it has been shown to be involved in the recurrent t(12;22) translocation observe...
