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Biomedical subjects

A Geneix

Publications and source records attributed to A Geneix.

At least 19 recordsLinked to original sources

Chromosome analysis by image processing in a computerized environment. Clinical applications.

Dealing with a routine regional cytogenetic activity, we have developed and adapted to clinical work a semi automatic karyotyping machine. Attempts for an accurate automated chromosome classification using a neural network have led to partial results. A specific adaptation to cancer cytogenetics is under development (determination of the modal number, translocations analysis with densitometric curves, automatic identification of markers). A specific program allows quantification of chromosome labelling with radioactive probes. Exchanges of digitized karyotypes are feasible with labs using automated karyotyping machines. A local network connects several karyotyping and metaphase finding stations. Guidelines for an international data bank concerning abnormal chromosome images have been elaborated. On the other hand the ISH techniques have been applied to the following topics: identification of human chromosome aberrations in amniotic and chorionic cells, chromosome studies of human gametes and embryos (including sex determination), identification of markers in cancer cells.

Chromosome Aberrations

[Complete and homogenous trisomy 9 detected in utero].

During a gestation with oligoamnios and growth retardation noticed at 25th week an amniocentesis allowed us to discover the 14th case of complete trisomy 9, the third detected in utero. It is also the first without heart malformation, otherwise phenotype was usual. The liver had small areas of necrosis with calcifications and slight fibrosis which may be in relation with two cordocentesis made before expulsion. The important phenotype alterations and poor outcome of fetuses with trisomy 9 justify elective abortion.

Abortion, Therapeutic

[Chromosome analysis using image processing. Recent aspects and perspectives].

After a brief description of the automatic metaphase finding and karyotyping systems actually available, the authors describe an interactive method for chromosome analysis. The edges of each chromosome are delineated automatically. The use of 256 grey levels and 512 x 512 pixels allows the accurate classification. The result may be recorded on hard copy, videotape or disk. Present improvements of the Chromoscan include histograms, quantitative studies and the use of an expert system.

Chromosome Aberrations

[A new system of chromosome analysis by image treatment: the chromoscan].

The authors present a new interactive system for chromosome analysis. All the operations are checked by the biologist with the use of a "mouse". This system avoids the photographic work and the manual classification. Its main interest is to carry out quickly the karyotype after the slide preparation.

Animals

Translocation t(3;20) associated with thrombocythemia in Ph-positive CML.

A patient with Philadelphia (Ph) chromosome positive chronic myelocytic leukemia is described who also developed an abnormality of chromosome #3, i.e., t(3;20)(p21;p13), in blast crisis. This abnormality may be connected with the advent thrombocythemia. The disease was a thrombopenia in the initial phase.

Adult

[Cytogenetic study of 20 cases of refractory anemia].

The myelodysplastic syndromes are a group of hematological disorders not yet clearly defined. The authors describe the chromosomal aspects of 20 cases observed in the region of Clermont-Ferrand in comparison with the bibliographical data.

Aged

[Trisomy of the short arm of 9 with isochromosome 9p and partial monosomy Yq].

A patient with trisomy 9p in association with monosomy of the heterochromatic distal portion of the Y chromosome is reported. The rearrangement is probably due to malsegregation of a translocation 9p, Y and formation of an iso (9p). The phenotype of the patient is characteristic of trisomy 9p. There is a significant increase of GALT activity.

Abnormalities, Multiple