Biomedical subjects
Publications and source records attributed to J Nielsen.
An EEG study has been made of 50 women with Turner's syndrome, 39 found outside institutions and 11 in institutions for the mentally retarded. We found paroxysmal EEG abnormalities in 23 per cent of the former and in 55 per cent of the latter. We found indications of occipital lobe defects in the mentally retarded Turner women.
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A survey of previous studies of aneuploid chromosome aberrations associated with aging with a discussion of the present evidence for this as well as a discussion concerning cause and effect of aneuploidy and the need for further studies of aneuploidy as a possible aetiological factor in aging and dementia are described.
Renewed examinatinon with improved banding techniques of a boy previously reported to have the karyotype 46, XY,del(12)(p11) revealed a translocation 46, XY,t(10;12)(p13;p11), and reexamination of a boy previously reported to have the karyotype 46,XY/46,XY,del(5)(p13) showed the same mosaicism, but with a significantly lower frequency of cells with del(5)(p13), 8% compared with 23% at the time of birth. The decrease of the frequency of cells with chromosome abnormality in mixoploids during the first years of life as found in the present case as well as in prevously reported cases is discussed.
Chromosome analysis has been made of 11148 children; 29 had sex chromosome abnormalities (2.60 per 1000) and 64 autosomal abnormalities (5.74 per 1000). The total incidence of major chromosome abnormalities was 8.34 per 1000. The incidence of chromosome variations was 16.8 per 1000. The most common variants were those with variation in size of short arms-satellites in D and G chromosomes and variations in Y chromosome size. So far, very little is known about the significance of such chromosome variations. The incidence of most chromosome abnormalities in liveborn children is well established by now from studies of a total of 54749 consecutively liveborn children in 6 studies as shown in Table 1. More chromosome studies of liveborn children are, however, needed for several purposes such as finding families with chromosome translocations, studying segregation rates and giving genetic advice to families with inheritable chromosome aberrations and an increased risk of getting children with unbalanced chromosome abnormalities, mental retardation and physical abnormalities. One of the main purposes in chromosome examination of newborn children is to study the development of children with different chromosome abnormalities, especially those with sex chromosome abnormalities, and compare then with controls, treat them when needed and give advice to the parents of such children.
An analysis has been made of mosaicism found in the different types of chromosome abnormalities among the 19000 persons examined at the Cytogenetic Laboratory, Risskov. The percentage with mosaicism was 36 in both triple-X and Turner's syndrome, it was 7 and 11% in XYY and Klinefelter's syndrome, respectively, and 2 in autosomal abnormalities. We found a mosaicism frequency of 11% in population studies with 5 cells analyzed primarily compared with 7% in other studies, in which 10-50 cells were analyzed primarily. (The difference is not significant.) The total frequency of mosaicism was 8%. The first cell with the chromosome aberration establishing the mosaicism was found among the first 5 cells in 40 of the 44 cases with mosaicism, and all but one of the 44 cases would have been established as mosaics, if the guidlines indicated by Bochkov et al. (1974) had been followed; that is 11 cells analyzed primarily, and if one of these cells has a chromosome aberration, the number of cells analyzed is increased to 17; if 2 cells have the same chromosome aberration, the number of cells analyzed is extended to 23, and if 3 cells with the same chromosome aberration is found among these 23 cells, the mosaicism is established. Aneuploid or structural chromosome abnormalities present in all cells may be detected by analysis of 2-3 cells of good quality. Mosaicism with 2 or more cell clones with different chromosome patterns are extremely difficult to detect, if the percentage of cell clones with chromosome aberration is low. The incidence of chromosome abnormalities found in all cells in newborn children in the different studies is very similar as shown in a recent survey of 6 different studies by Jacobs et al. (1974). The incidence of mosaicism varies according to the frequency of artefactual aneuploidy, the variety of tissue studied, number of cells analyzed from each tissue as well as the acuity of the observer and the checking procedures.
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The incidence of Edwards' syndrome was found to be 1 per 4857 newborn children of 34000 consecutively newborn children in two Danish counties. Six of the 7 cases were born during the months of February through April. The incidence was high compared with the expected incidence of Edwards' syndrome of approximately 1 per 10000. This might be due to clustering in the area studied during the period 1967 to 1973. The finding of variations in incidence of children with Edwards' syndrome in different parts of the world, as well as the finding of seasonal variation in birth of such children, indicates that some of the etiological factors of nondisjunction of chromosome 18 are of an environmental nature.
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The purpose of making chromosome investigations of newborn children as well as ethical problems in such studies and in follow-up studies of children with chromosome abnormalities is discussed, and a survey of 6 chromosome studies from a total of 47 145 newborn children is presented. It is stressed that more chromosome studies of newborn children are needed for several reasons, but one of the main reasons is to study the development of children with different chromosome abnormalities, especially those with sex-chromosome abnormalities and compare them with controls.
In a cytogenetic-psychological study of 47 school boys in special classes and 48 controls in normal classes in a Danish city no significant difference was found between the mean Y length. There were, however, four boys with enlarged Y among the 47 in special classes, compared with one of the 48 in the normal classes. We found a significant correlation between length of Y and level of activity with increase of level of activity correlated with increase of length of Y when both groups were taken together (P is less than 0.005). The mean activity score was 6.5 for the boys with Y/F is less than or equal to 0.83, compared with 8.1 for those with Y/F greater than or equal to 0.95 (P is less than 0.005). If the milieu is restrictive with poor understanding and support for the needs of a boy, a comparatively large Y with associated high level of activity might intensify the problems of such a boy. If the milieu is positive, understanding, permissive and with possibilities of channeling activity, the large Y associated with a high level of activity might be a positive factor in personality and social adjustment. The present study shows certain tendencies confirming this.
The psychological test results of five XYY males from in a population study showed an intellectual level within the normal range but with a mean full scale IQ and educational level lower than expected. The cognitive as well as emotional function was characterized by immaturity, manifested in passivity, unreflectiveness and emotional liability, in three resulting in uncontrolled aggressive outbursts. Conflict material also appeared immaturely resolved, centering around unfulfilled needs of contact and insecure masculine identification. The defense mechanisms used were generally rather weak, but only in one subject did the anxiety level seem to be excessively low. All five males differed to a certain extent from their siblings; three of them were hyperactive, restless, hot-tempered and impulsive at school and four of them had difficulties at school. Three learned a trade, but only one stayed in his trade, and one was applying for disablement pension on account of personality deviation. Two of the five had a criminal record. It is concluded that the presence and degree of the above-mentioned characteristics of XYY males varied. It is evident that environmental factors play as great a role for the development of personality and behaviour in males with karyotype 47, XYY as in males with a normal chromosome constitution.
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