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Biomedical subjects

C Stoll

Publications and source records attributed to C Stoll.

At least 199 records · Page 11Linked to original sources
PubMed1986

Usefulness of a registry of congenital malformations for genetic counseling and prenatal diagnosis.

During three years, 39,924 infants born consecutively in the area covered by our registry of congenital malformations were surveyed; 775 had major congenital malformations. Recurrence risks for the major malformation was estimated and classified as high (greater than 10%, 5.3% of the cases), low (1 to 10%, 85.3% of the cases) or occasional (less than 1%, 9.4% of the malformed). Feasibility of prenatal diagnosis was considered. On the basis of the recurrence risk of 1% or higher and the feasibility of prenatal diagnosis, such a procedure should be considered in future pregnancies in 64.1% of the mothers. Genetic counseling has to be given to couples at risk of having a malformed child. For this purpose, as is shown in our study, the best way is the possibility of using a registry of congenital malformations.

Abnormalities, Multiple↗
PubMed1985

A Weaver-like syndrome with endocrinological abnormalities in a boy and his mother.

A boy and his mother had dysmorphic features and accelerated growth of prenatal onset suggestive of the Weaver syndrome. Both had endocrinologic abnormalities. The boy had very low, hGH, which did not respond to stimulation. The mother had low, non-stimulate hGH hyperprolactinemia with secondary amenorrhea and galactorrhea. This is the first report of a mother to son transmission of the condition.

Abnormalities, Multiple↗
PubMed1985

[Opsomyoclonus syndrome in children. A new case. Review of the literature (110 cases)].

The authors report a new case of infantile myoclonic encephalopathy with opsoclonus and neuroblastoma in a 14 months-old infant. Some immunologic abnormalities were found at the initial course of the disease. The review of 110 cases of "dancing-eyes syndrome" permit them to specify clinical features and prognosis but cannot explain the pathogenesis of this rare disease.

Adrenal Gland Neoplasms↗
PubMed1985

[Early biopsy of chorionic villi. Personal experience and review of the literature].

Chorionic villus biopsies made during the first trimester of pregnancy offer the advantage of earlier antenatal diagnoses than usual methods. This technic was introduced about 15 years ago but recently improved thanks to innovations in equipment and the contribution of echography. 75 biopsies were made using aspiration technic by echographic-guided catheter. These biopsies were carried out before elective abortion, 18 in an ambulatory setting one to three weeks before the abortion in order to test the social acceptability and tolerance of this method, as well as the inherent risks involved. The biopsy technic is described as well as preliminary results of chromosomic analyses of biopsied chorionic tissues. Drawing from a perspicacious review of the literature, the respective advantages of various biopsy technics and their uses (i.e. sex determination and chromosome analyses by culture and especially direct methods, study of fetal DNA, and enzyme assay) are examined. Finally, the risks of biopsy technic in the immediate and near future are discussed, and the indications today for this new technic are described.

Abortion, Therapeutic↗
PubMed1985

[Correlations between pregnancy pathology, study of the placenta, antenatal echography and examination of the product of conception in a series of 175 congenital malformations].

In order to verify the hypothesis that during pregnancy in a woman without peculiar history, signs could be discovered when the fetus is malformed we have reviewed the files of 175 women who had a malformed child and of 300 controls. All of these women had at least one clinical examination and one ultrasonographic examination during pregnancy. Two clinical symptoms were more often discovered in the mother of the malformed fetus (p less than 0.001): decrease of fetal movements and small for date fetus. The placenta is never abnormal in the mother with normal fetus. Placenta is abnormal in 31% of the mother with malformed fetus but the abnormalities are not specific. Ultrasonographic examinations allowed more often the discovery of a malformation when hydramnios (p less than 0.001) or fetal hypotrophy (p less than 0.01) or an anomaly of the morphology of the fetus is discovered. Accuracy of prenatal diagnostic is considered for the different categories of congenital malformations.

Congenital Abnormalities↗
PubMed1984

Discordance for skeletal and cardiac defect in monozygotic twins.

A case of monozygotic male twins discordant for skeletal and cardiac defect is reported. One twin had the hemifacial microsomia type of the oculo-auriculo-vertebral dysplasia. The cotwin had no asymmetry of the face and normal ears, but preaxial polydactyly and ventricular and auricular septal defects. The cotwins were concordant for craniostenosis with a ridge metopic suture. Karyotypes were normal.

Diseases in Twins↗
PubMed1984

Trisomy 1q24----1q41 in two sibs with an insertion in an inverted chromosome 4.

We report two patients whose karyotype revealed an additional segment 1q inserted into an inverted chromosome 4. The patients were partially trisomic for the region 1q24----1q41, karyotype 46,XY or XX, inv ins(4;1)inv(4)(q28;q24q41)(p15 . 3q28), while in the mother the chromosomal aberration was balanced. The inserted segment was inverted. In six patients from three other families with insertions, the segment 1q25----1q32 was inserted into the short arm of chromosome 1. In another patient, the segment 1q25----1q42 of the mother was inverted and inserted into the long arm of chromosome 6. These findings suggest an increased susceptibility for a segment of the long arm of chromosome 1 to be inserted and inverted in rearrangements.

Abnormalities, Multiple↗
PubMed1983

[School attendance of children with trisomy 21. A 4-year experiment].

Four years ago a class was started with 8 children from 7 to 11 years of age with Down's syndrome. The classroom is in a state school. The children lived at home. They were with the other children of the school for several classes and for lunch. Like other children they learned reading, writing and arithmetic. Psychomotricity was emphasized. The children's I.Q. and behavior were studied before entering the class. After 24 to 30 months every child was able to read and write. Their I.Q.'s were retested after 4 years and the results were far better than previously. The children gained confidence and began to cope very well at school and outside school.

Child↗
PubMed1983

Paternal age and Down's syndrome diagnosed prenatally: no association in French data.

An investigation of a paternal age effect independent of maternal age was undertaken for 118 trisomy 21 cases diagnosed prenatally in 6656 amniocenteses. The mean of the difference delta in paternal age of Down's syndrome cases compared to those with normal genotypes after controlling for maternal age was +0.46 with a 95 per cent confidence interval of -0.84 to +1.76. This revealed no evidence for a paternal age effect. Multiple applications of the Mantel-Haenszel test revealed no statistically significant evidence for a paternal age effect independent of maternal age. These results are in agreement with those of Hook and Cross (1982b) but not with claims of Stene et al. (1981), of a strong paternal age effect detected in studies on prenatal diagnosis. The hypothesis suggested by Hook and Cross (1982a) that there is a rather weak paternal age effect independent of maternal age in most if not all populations cannot be excluded. If temporal or geographic factors account for the differences in studies on paternal age effect, extrapolation to other time periods or populations cannot be done.

Adolescent↗
PubMed1983

Reexamination of paternal age effect in Down's syndrome.

The recent discovery that the extra chromosome in about 30% of cases of 47, trisomy 21 is of paternal origin has revived interest in the possibility of paternal age as a risk factor for a Down syndrome birth, independent of maternal age. Parental age distribution for 611 Down's syndrome 47, +21 cases was studied. The mean paternal age was 0.16 year greater than in the entire population of live births after controlling for maternal age. There was no evidence for a significant paternal age effect at the 0.05 level. For 242 of these Down's syndrome cases, control subjects were selected by rigidly matching in a systematic manner. Paternal age was the variable studied, with maternal age and time and place of birth controlled. There was no statistically significant association between paternal age and Down's syndrome. After adjustment for maternal age, these two studies were not consistent with an increase of paternal age in Down's syndrome.

Adolescent↗