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Biomedical subjects

F Giraud

Publications and source records attributed to F Giraud.

At least 145 records · Page 8Linked to original sources
PubMed1980

Maternal age and origin of non-disjunction in trisomy 21.

The role of maternal age in chromosomal non-disjunction was investigated by studying 51 families in whom the origin of the meiotic anomaly had been identified. Results of this study were compared with previously published data. This comparison did not show any difference in mean maternal age, nor in distribution of maternal ages when the origin of non-disjunction was maternal, or paternal, or occurred at the first or second meiotic division. These results make questionable the role of maternal age in the birth of Down's syndrome children.

Chromosome Banding↗
PubMed1980

[Chromosome abnormalities: known risk factors].

The high incidence of chromosomal anomalies at birth and the severity of the resulting handicap led to examining their detectability by amniocentesis. With current indications for amniocentesis, the detection rate did not excede 30%. Consequently, it seems necessary to estimate the importance of other known risk factors and to calculate the resulting impact this would have on eventually broadening the indications for amniocentesis. A review of the literature led the authors to discuss the relative importance of each known risk factor and its role in public health.

Amniocentesis↗
PubMed1980

[Prolactin adenomas in children (author's transl)].

During the last four years 12 Prolactin (PRL) secreting adenomas whose first clinical manifestation appeared before the age of 15 years have been studied. The first signs were a decreased growth rate and arrest of pubertal development in 4 girls and 2 boys in whom the adenoma occurred before or during puberty. In the other six cases (5 girls and 1 boy) the first signs were secondary amenorrhea and galactorrhea in girls and in the boy gynecomastia followed by galactorrhea. Symptoms of the tumour (headaches, and visual disturbances) were almost invariable (11/12) and led to the diagnosis in two cases. Plasma PRL levels were always elevated (80 to more than 5,000 ng/ml) and did not rise in response to TRH. 11 out of 12 were large tumours and pituitary tomography showed that tumour was circumscribed in five cases and invasive in the other seven. The prognosis is related to the short term outcome. The condition may be cured by surgery only (25% cases only) or by surgery and bromocriptine.

Adenoma↗
PubMed1980

[Prenatal diagnosis of upper limb malformations].

Three children with thrombopenia and radial aplasia were examined at the Centre de Génétique Médicale of Marsielles from 1974 to 1976. In each case the genetic basis of the anomaly was discussed with the family at genetic counseling underlining the high risk of recurrence related to the autosomal recessive transmission. Each proband was the only child of the couple. In the first case the father and mother, each having one child from a previous marriage, decided to have no more children. In the second case, the use of fetoscopy and its limitations were discussed as another pregnancy was desired. However, the parents finally refused the procedure during pregnancy which yielded a second child with phocomelia who did not survive. In the third and most recent case the proband died. Since the young couple strongly desired another child, ultrasonic monitoring of pregnancy was cautiously suggested and its limitations clearly exposed. Echography was regularly repeated from the third month of pregnancy. The forearms were never detected on echography, nor on fetal radiography. Pregnancy was thus interrupted with prostaglandins at 21 weeks gestational age. On examination the fetus presented bilateral aplasia of the forearm. Based on these observations, the authors discuss the problems raised by prenatal diagnosis of upper limb malformations.

Ectromelia↗
PubMed1979

Abnormal childhood phenotypes associated with the same balanced chromosome rearrangements as in the parents.

Three patients have been detected because of abnormal phenotypes. Balanced chromosome rearrangements were found in their karyotypes, and in one of the parents in each case. In these three families the association of an abnormal phenotype and a balanced chromosome rearrangement may either be a chance happening or be induced by a submicroscopic loss of chromosome material, for which different position effects may be responsible, according to the case in question. These observations prompt us to ask what decision should be made relative to termination of pregnancy if such a rearrangement is found in amniotic cells in a family with a previous abnormal child.

Adult↗
PubMed1979

Origin of the extra chromosome in trisomy 21.

Of 61 families of children with trisomy 21, polymorphism of chromosome 21 elucidating the origin of the extra chromosome was found in 42. Nondisjunction was of paternal origin in 8 cases (19.04%) and the anomaly occurred with equal frequency during the first and second meiotic divisions. Maternal nondisjunction was demonstrated in 34 cases (80.95%), in which nondisjunction occurred by far the most often during the first meiotic division (29 cases). These results are in agreement with data from the literature, and suggest the existence of at least two different causes for chromosomal nondisjunction, the first being the same in both sexes and occurring in both meiotic divisions and the second specifically limited to the first meiotic division in the mother.

Chromosome Banding↗
PubMed1979

Dermatoglyphics in parents of children with trisomy 21. Evaluation of their interest in genetic counselling.

Dermal patterns in a group of Down's syndrome patients, a normal control population and a group of parents of Down's syndrome patients were studied in an attempt to identify an Index Score to be used in differentiating controls from parents of Down's syndrome children. Using only three patterns (simian crease, palmar hypothenar pattern and Cummins' Index), a parents' Index Score was established which correctly diagnosed 80.83% of controls and 79.17% of parents. The predictive value of this index and its interest in genetic counselling are discussed.

Child↗
PubMed1979

Duchenne type muscular dystrophy and consanguinity: difficulties in pedigree analysis.

We report the case of a 2-year-old girl who had signs of Duchenne type muscular dystrophy on clinical, electromyographic, laboratory, and pathological examination. The parents of the child are first cousins. A brother and nephew of the mother also had Duchenne type muscular dystrophy. Karyotype analysis in the proband showed both X chromosomes to be morphologically normal. The mother had very high plasma CK levels, equivalent to those observed in carriers of the disease. We discuss different hypothetical mechanisms designed to account for the family pedigree.

Biopsy↗
PubMed1979

Distribution of spontaneous chromosome breaks in man.

The distribution of break points in human chromosomes was analyzed in 15,754 metaphases from 1084 patients. A total of 1099 breaks were specifically localized to a chromosome band or region depicted in the PARIS CONFERENCE (1971) report. The sites of the breaks were very different from the expected random distribution and showed distinct clustering of breaks in some regions. These observations underline the heterogeneity of chromosomal material and furnish comparative data for the study of cytotoxic agents and constitutional chromosomal fragility.

Chromosome Aberrations↗
PubMed1979

[Partial trisomy 21].

Three mentally retarded children with partial trisomy 21 who looked like children with complete trisomy 21 had increased activity of superoxide dismutase A. This emphases the pathogenic role of the 21q22 band in this condition.

Adolescent↗
PubMed1979

[Pericentric inversions: studies in 47 cases].

The authors report 47 cases of pericentric inversion. Eleven of them involve the chromosomes No. 2, 11 and 9. It appears that the risk of malformations and/or encephalopathy is obviously increased either by "position effect", aneusomie de recombinaison" or "interchromosomal effect". Prenatal diagnosis is therefore indicated. Thirty six cases involve the secondary constriction of chromosome No. 9. In such cases the risk is not enough increased to justify the prenatal diagnosis.

Brain↗