Biomedical subjects
J Nielsen
Publications and source records attributed to J Nielsen.
Human cytogenetic registers. A description of nine systems together with some recommendations.
Explore the source record for details and available documents.
Cytogenetic investigation in twins with manic-depressive disorders (22 monozygotic and 27 dizygotic twin pairs).
Chromosome examination was made in 22 monozygotic and 27 dizygotic twin pairs of whom one or both of each pair suffered or had suffered from manic-depressive disorder. We found a significantly higher frequency of chromosome variations among dizygotic twin pairs than was expected from population studies, but not in monozygotic pairs. There was no association between the chromosome variations and manic-depressive disorders. We found no greater intra-pair correlation in monozygotic twins compared with dizygotic twins as regards hypodiploidy, hyperdiploidy and unstable chromosome aberrations, which indicates that the aetiology of such aberrations is mainly of exogenic nature.
Eighteen years of community psychiatric service in the island of Samsø.
An analysis has been made of patients aged 15 + referred to the community psychiatric service in a Danish rural population during 18 years. The mean referral rate per year was 17.9 per 1,000. The majority of the patients (79 per cent) were referred to the clinic by the general practitioners, and it is stressed that a close and good co-operation between the psychiatrists and the local physicians is one of the most important factors in establishing a good community psychiatric service. Only 11 per cent of all referrals were admitted to a psychiatric hospital. The admission frequency for psychoses was only 19 per cent, and it was estimated that it would have been approximately 44 per cent higher, if the service had been of the usual hospital-oriented type. Forty-three per cent of the patients were visited by the psychiatrist in their home at least once and 42 per cent of all 6,000 consultations were home visits. When evaluating the treatment possibilities it was considered that approximately 50 per cent of all patients referred could be treated by the local physicians after examination by psychiatrists and discussion of the cases with them.
A case of 46,X,t(X;X)(pter to q27::q27 to pter)/47,X,t(X;X) (pter to q27::q27 to pter), + mar/48,XX,t(X;X)(pter to q27::q27 to pter), + mar and a functionally monocentric translocation X.
Explore the source record for details and available documents.
[Sex chromosome abnormalities in adults (author's transl)].
Explore the source record for details and available documents.
[Total gastrectomy in the treatment of carcinoma of the stomach (author's transl)].
Explore the source record for details and available documents.
[9p syndrome. Deletion of the short arm of chromosome 9; Monosomy of short arm 9].
Explore the source record for details and available documents.
[Klinefelter's syndrome in boys].
Explore the source record for details and available documents.
Center for Barr body condensation. A case of Turner's syndrome with 45,X/46,X,dic(X) (Xqter leads to p22::p22 leads to qter).
An 11-year-old girl with karyotype 45,X/46,X,dic(X) (Xqter leads to p22::p22 leads to qter) is presented. The abnormal X is always found to be the inactive and late replicating X, and according to previous investigations by Therman et al. (1974) part of the cells are seen to have bipartite Barr bodies.
A family with a high risk of segregation for an autosomal unbalanced reciprocal translocation.
A family with autosomal reciprocal translocation t(4;13) (q25;a31) with a sibship comprising 2 children with unbalanced karyotypes, der(13) partial trisomy 4q, 1 child with the balanced translocation, and 2 abortions were studied. The segregation risk of unbalanced derivation in reciprocal translocations is discussed. The clinical picture of the 2 children with partial trisomy 4q is compared with similar cases.
Cell selection in vivo in normal/aneuploid chromosome abnormalities.
Cytogenetic follow-up examination has been made of the 9 mixoploid children found among 11 148 newborn children. In 4 of the 9 children there was a significant increase in the frequency of the cell line with normal chromosome constitution and a significant decrease in the normal cell line was found in 1 child. In 4 there was no significant difference from the first to the last examination. The frequency of the cell line with normal chromosomes increased from 32-68% to between 93-97% in 3 cases and to 86% in 1. The possibility that children with mixoploid chromosome abnormalities at birth will reveal no cell line with chromosome abnormality in lymphocyte cultures as adults in spite of having clinical signs of the chromosome aberration found in one cell line at birth is discussed.
Serum immunoglobulin M, G, and A concentration levels in Turner's syndrome compared with normal women and men.
Serum concentrations of immunoglobulin G (IgG), immunoglobulin M (IgM) and immunoglobulin A (IgA) were determined in 15 women with a lack of X chromsome material (Turner's syndrome), and compared with the immunoglobulin concentrations in normal men and women. Further, the investigation is supplemented by a comparison of normal women and the Turner group matched according to age. The serum concentrations of IgG and IgA in women with Turner's syndrome were very close to the concentration in serum from normal men, whereas the concentration of IgM was significantly lower. Compared to normal women the concentrations of IgG and IgM were significantly lower, and the concentration of IgA significantly higher in the Turner group. Whether these differences in serum immunoglobulins are determined by hormonal factors or under direct genetic control linked to the X chromosomes, is discussed.
A boy with 47,X,del(X)(p11leads to q13:q21leads to q24),del(Y)(q11):reexamination of a case previously described as 47,XX,?Yq-.
Before the introduction of the banding technique we studied a boy presented as a case of 47, XX,?Yq-(Christensen and Nielsen, 1971). The case has been restudied with the use of different types of banding, which revealed the following karyotype 47, X,del(X)(p11 leads to q13::q21leads toq24), del(Y)(q11).
Twins in the sibships and parental sibships of women with Turner's syndrome.
The twin birth frequency in the sibships of 45 females with Turner's syndrome was 3.7% for the 21 females with 45,X and 5.7% for the 24 with other karyotypes. The 5.7% is significantly higher than the expected mean frequency of 1.4% in the Danish population from 1900 to 1974. The twin birth frequency in the sibships of the mothers of the 24 females with karyotypes other than 45 X was 4.7% which is also significantly higher than expected. The twin birth frequency in the sibships of the 21 mothers of 45,X females did not deviate significantly from the expected frequency, and nor did that of the father's sibships. It is concluded that these findings indicate that there might be an association between the increased risk of X chromosome aberration in the progeny due to mitotic non-disjunction, isochromosome or ring chromosome formation on one hand, and twin formation on the other hand. Such X chromosome aberration and twin formation might thus have some common aetiological factors, and some of the possibilities are discussed.
Autosomal reciprocal translocations and 13/14 translocations: a population study.
Fifteen children with autosomal reciprocal translocations were found in an incidence study of chromosome aberrations among 11,148 consecutively liveborn children in a Danish Maternity Hospital (1.34 per 1,000). The segregation rate of the balanced forms was 60% and that of unbalanced forms 4%; the frequency of familial cases was 73%. None of the probands or their relatives who carried the balanced translocation had any physical or mental abnormalities which could be associated with the chromosome aberration. We found two children with unbalanced translocations among the 45 relatives examined, but more studies of unselected population groups are needed before any segregation rates for unbalanced derivatives of autosomal reciprocal translocations can be estimated. We found a significantly higher frequency of abortions, stillbirths and perinatal deaths in the progeny of carriers with the translocation, compared with non-carriers in the same families. The unbalanced forms of autosomal reciprocal translocations in most cases are probably not compatible with the development of a foetus to a liveborn, healthy child. Fifteen children with 13/14 translocation were found among 11,148 consecutively liveborn children. Incidence, segregation rates and type of translocation are discussed. Fertility and risk for carriers of D/D translocations of producing children with autosomal trisomy are discussed.