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Article
Biologie moléculaire des sarcomes des tissus mous
Les sarcomes des tissus mous (STM) regroupent des tumeurs de différentes origines histologiques, ayant une agressivité variable et dont le diagnostic, déterminant sur l’efficacité de la prise en charge du pati...
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Article
Open AccessBreast cancer risk in ataxia telangiectasia (AT) heterozygotes: haplotype study in French AT families
Epidemiological studies in ataxia telangiectasia (AT) families have suggested that AT heterozygotes could have an increased cancer risk, especially breast cancer (BC) in women. It has also been suggested that ...
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Article
Familial non-syndromic conotruncal defects are not associated with a 22q11 microdeletion
Molecular studies have shown microdeletions in region q11 of chromosome 22 in nearly all patients with DiGeorge, velocardiofacial and conotruncal anomaly face syndromes (DGS, VCFS and CTAFS, respectively) and ...
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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...
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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
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
A one-step efficient and specific non-radioactive non-fluorescent method for in situ hybridization of banded chromosomes
A non-radioactive method for in situ hybridization of cosmid probes to metaphase chromosomes is described. Two procedures are involved: (i) hybridization with a cosmid probe labelled by nick translation in the...
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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
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
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
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
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
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
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
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
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
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
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 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).
