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Biomedical subjects

J F Mattei

Publications and source records attributed to J F Mattei.

At least 109 records · Page 6Linked to original sources
PubMed1982

GENTIC: a computerized medical genetic case record system.

Gentic is a computerized system for the storage, recall, and analysis of data collected by the Medical Genetics Center in Marseille, France. It is based on a standard case report file that includes a full clinical description of all patients, results of cytogenetic investigations, and details of the genetic counseling provided. GENTIC has been used since 1975, and data on more than 5,000 families are accessible for study. This system has improved the quality of consultations, follow-up, and research. It provides data for epidemiological studies and for syndrome identification. This system is maintained at an annual cost of $3,000, salary costs not included, after an initial investment of $40,000.

Computers↗
PubMed1982

Atelosteogenesis.

The name atelosteogenesis is proposed for a lethal chondrodysplasia characterized by deficient ossification of various bones, notably the humerus, femur, thoracic spine, and hand bones. Clinically, the patients have micromelic dwarfism with incurvated legs, club feet, often dislocation of the elbows, and, rarely, a cleft palate. The most characteristic radiographic signs are incomplete ossification of the vertebral bodies with coronal clefts of the lumbar and hypoplasia of the upper thoracic vertebral bodies, a distal hypoplasia and club shape of the humerus and the femur, and the lack of ossification of single phalanges and metacarpals in most patients. Histologically, there are clusters of chondrocytes surrounded by fibrous capsules and, more frequently, degeneration zones containing degenerated chondrocytes and copious amounts of metachromatic material in the epiphyses and the basal zone of the growth plate.

Abnormalities, Multiple↗
PubMed1982

X-autosome translocations: cytogenetic characteristics and their consequences.

To define the principal characteristics of X-autosome translocations, the authors present a study of 105 cases, five of which are personal observations. The autosomal pairs 15, 21, and 22 are affected by t(X-Aut) more often than would be expected. The distribution of breakpoints on the X chromosome does not differ significantly from the expected distribution. The analysis of different patterns of inactivation seems to confirm that the inactivation could occur at random, but would be followed by a cellular selection favoring the better genetic balance. An estimate of the incidence of t(X-Aut) is proposed, based upon the conclusions that only one chromosome is susceptible to translocation in meiosis in both males and females and that all affected men will be sterile, as will be 50% of women.

Chromosome Banding↗
PubMed1981

X-linked mental retardation with the fragile X. A study of 15 families.

The clinical and cytogenetic features of 15 families with mental retardation linked to the fragile site on the X chromosome are presented. The 15 propositi were all prepubertal, and one was a girl. Although the clinical picture varied in severity, it was sufficiently constant to suggest the diagnosis from the facial features and the encephalopathy with language retardation and disturbed behavior. Macroorchidism was not seen before puberty. The fragile X chromosome was found in seven of the nine mothers studied and in two mildly retarded sisters and has also been demonstrated in fibroblasts in eleven subjects with the abnormality.

Adolescent↗
PubMed1981

Partial inversion of the secondary constriction of chromosome 9. Does it exist?

Pericentric inversion of chromosome 9, a common abnormality, has been much studied because of its possible genetic effect. Apart from total inversion, in which the whole heterochromatic segment of chromosome 9 appears to be situated on the short arm, some authors describe partial inversion, in which the heterochromatin is found partly on the long arm and partly on the short arm. Our study indicates that firstly, the heterochromatic segment of chromosome 9 is composed of two biochemically different subunits: the heterochromatin of the centromere itself and the heterochromatin of the secondary constriction. Secondly, it suggests that partial inversion of the secondary constriction of chromosome 9 is an unusual event, as the majority of published cases can be interpreted as the result of an increase in the centromeric heterochromatin without alteration of the secondary constriction.

Centromere↗