[Hypo-hyperparathyroidism in a boy with an 8-20 translocation in mosaicism].
Explore the source record for details and available documents.
Biomedical subjects
Publications and source records attributed to F Serville.
Explore the source record for details and available documents.
Having come across a family where the wife of a father who had 47 XYY chromosomes had 5 pregnancies, of which 3 were pathological (one case of anencephaly and spina bifida, one early abortion, one stillborn girl) the authors reviewed the literature concerning the lineage of parents with 47 XYY chromosomes. We have details of a total of 34 subjects who had this caryotype. 10 of them were sterile (30 per cent) and 10 (30 per cent) had a pathological lineage. Only 14 subjects (40 percent) gave rise to a line of normal descendants. The authors discuss the mechanism by which this caryotype (47 XYY) might be transmitted. They point out that so far only few cases have been published and conclude that it is important that many details about this subject should be published so that worthwhile genetic counselling will later be able to be carried out.
Explore the source record for details and available documents.
Monosomy 9p is reported in a boy with trigonocephaly and advanced bone age.
In 30 couples consulting after two or more failed pregnancies, the authors detected two women with reciprocal translocation in the heterozygous condition: t (5 ; 6) (q 35 ; q 21) in one case. t (5 ; 10) (q 15 ; q 25) in the other case. In both cases, there was, later, birth of a normal boy of karyotype 46, XY. It thus appears obvious that the balanced structural changes which occur in the fertility of these couples, reduces the latter.
The case of a sibship of 4, 2 members of which present aneuploïdy (45,X and 47,XX,21+) is reported. The paternal grandfather and grandmother are first cousins and there is a large number of centromeric associations in the father.
Explore the source record for details and available documents.
A 17-month old boy is partially trisomic for 7q22 and 7q31 due to a probable insertion in the paternal chromosome 13. The phenotype of the patient is similar to that of two other patients reported in the literature.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
Congenital deficiency of antithrombin III is a disease inherited as an autosomal dominant which predisposes to thromboembolism. Pregnancy and the postpartum period constitute a major additional risk factor for thromboembolism in deficient women. However, pregnancy may be envisaged without risk since there has been an improvement in knowledge concerning the physiology of the AT III molecule, its exact role in coagulation, the application of accurate laboratory tests which measure the deficiency, and especially the programming of pregnancy under cover of preventive treatment consisting of the perfusion of AT III concentrate in association with heparin. The treatment is restricting and costly but is, nevertheless, the only one to recreate conditions that are similar to physiological conditions, and its effect is therefore more certain.