Clastogenic factors and abnormal plasma fractions in a female patient with severe aggressiveness.
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Adult↗
Biomedical subjects
K H Gustavson
Publications and source records attributed to K H Gustavson.
Familial ovarian dermoid cysts.
A family consisting of a mother and her two daughters with ovarian dermoid cysts showed an increased frequency of aneuploidy and chromosomal breakage indicating chromosomal instability.
Adult↗
[Fragile X syndrome--the most frequent hereditary type of mental retardation].
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Adolescent↗
Reduced optimality as an indicator of developmental status at 18 months and school achievement at 8 years.
Birth records of 97 children assessed at 18 months and found to be developmentally delayed were scored according to the optimality concept developed by Prechtl. These children were compared to a control series of 81 children. In order to evaluate the predictive validity of the parental developmental assessments performed at 18 months the children had been screened for school achievement problems at the age of eight years, yielding a distribution of true and false positives and true and false negatives. Rates of reduced optimality were compared to investigate firstly, the relationship between reduced optimality and developmental delay at 18 months and secondly, whether the follow-up distribution of true and false positives at eight years could be related to reduced optimality. The overall relationship between reduced optimality and developmental delay at 18 months and reduced optimality and school achievement problems at eight years was also investigated. The 15 low scoring cases registered as mentally retarded differed significantly from controls on total mean reduced optimality. Retarded and non-retarded low-scorers differed significantly on post partum sub-scores only. When the eight-year follow-up groups were compared both retarded and non-retarded true positives differed significantly from true negatives on total mean reduced optimality. The difference in post-partum reduced optimality between retarded and all other follow-up groups but non-retarded true positives reached statistical significance.(ABSTRACT TRUNCATED AT 250 WORDS)
Child↗
Gamma-glutamyl transferase activity in the amniotic fluid of fetuses with chromosomal aberrations and inborn errors of metabolism.
The activity of gamma-glutamyl transferase (GGT) was measured in amniotic fluid collected between the 16th and 30th weeks of gestation from 81 pregnancies with fetuses affected by chromosomal aberrations, nine with different types of inborn errors of metabolism, two with hemophilia A and one with fragile X syndrome. The GGT activity was compared with that from 1000 normal pregnancies and deliveries resulting in healthy newborns. Contamination of amniotic fluid by blood did not affect the GGT activity. Pathologically decreased activity was found in 25 of 56 amniotic samples from pregnancies with fetal autosomal chromosomal aberrations (44.6%). It was decreased in 15 of 35 pregnancies with fetal trisomy 21 (43%), in 11 of 19 pregnancies with fetal trisomy 18 (58%), in one of three pregnancies with fetal trisomy 13 and in two pregnancies with fetal trisomy 8 and triploidy, respectively. In only three of 16 pregnancies with fetal sex chromosomal aberrations was the GGT activity low. Increased GGT activity was found in three of six pregnancies with unbalanced structurally rearranged karyotypes of the fetuses. Normal GGT activity was observed in all nine amniotic fluid samples from pregnancies with fetuses affected with different forms of inborn errors of metabolism diseases, in the two pregnancies with hemophilia A and in the pregnancy with a male fetus with fragile X syndrome. These and earlier findings indicate that the GGT activity in amniotic fluid is mostly decreased in pregnancies with severe fetal developmental abnormalities, such as autosomal chromosomal aberrations, which could possibly be secondary to an alteration of the microvillar transport system of GGT to the amniotic fluid.(ABSTRACT TRUNCATED AT 250 WORDS)
Amniotic Fluid↗
New type of spinocerebellar degeneration syndrome in a northern Swedish population.
A follow-up investigation of 24 patients with hereditary spasticity in a geographically isolated northern Swedish population, first examined by Böök (1953), was performed. Fifteen of them were dead. During the period from 1950-1972 five new cases of spastic syndromes were diagnosed in this population. The patterns of clinical symptoms and the genetic associations between the new and 24 previously reported patients with spastic syndromes were analyzed. Three of the five new cases had a specific syndrome. This starts in the first years of life with ataxia, which is followed by dysarthria, spasticity and jerky intention tremor. Initially the patients are mentally normal, but there seems to be slight mental deterioration through the years. The disorder is a progressive spinocerebellar degeneration with autosomal recessive inheritance.
Ataxia↗
Relative effect of parental birth weight on infant birth weight at term.
The relations between some hereditary and environmental factors and the variation in infant birth weight were estimated by multiple linear regression analyses on a sample of 276 Scandinavian single term pregnancies. Gestational age explained 10.9%, fetal factors (maternal and paternal birth weights and fetal sex) 7.9%, maternal factors (parity, pre-pregnancy weight and height) 5.5% and external factors (adjusted weight gain and smoking) 5.8% of the variation in infant birth weight. It is concluded that maternal and paternal birth weights are rather poor predictors of infant birth weight. Together they explain only 5.6% of the variation in infant birth weight at term.
Analysis of Variance↗
An XXX male resulting from paternal X-Y interchange and maternal X-X nondisjunction.
A 2-year-old boy was found to have a 47,XXX karyotype. Restriction-fragment-length-polymorphism analysis showed that, of his three X chromosomes, one is of paternal and two are of maternal origin. The results of Y-DNA hybridization were reminiscent of those in XX males in two respects. First, hybridization to Southern transfers revealed the presence in this XXX male of sequences derived from the Y-chromosomal short arm. Second, in situ hybridization showed that this Y DNA was located on the tip of the X-chromosomal short arm. We conclude that this XXX male resulted from the coincidence of X-X nondisjunction during maternal meiosis and aberrant X-Y interchange either during or prior to paternal meiosis.
Child, Preschool↗
[Gamma-glutamyltransferase activity in amniotic fluid in fetuses with chromosome abnormalities and hereditary metabolic defects].
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Amniotic Fluid↗
DNA studies of X-linked mental retardation associated with a fragile site at Xq27.3.
The fragile-X mental retardation syndrome (FRAX-MR) is one of the most prevalent X-linked diseases. In affected males and in a proportion of carrier females a fragile site at Xq27.3 [fra (X)] is detected when the lymphocytes are cultured under conditions of thymidine deprivation. The fra (X) analysis can be used in the diagnosis of only 56% of carrier females (13, 14) and prenatal diagnosis by this method is not always feasible, thus making genetic counselling of affected families difficult, and sometimes impossible. We have analysed FRAX-MR families using RFLP and four DNA probes from Xq27-Xq28. Estimation of the recombination fraction indicates that the proximal probe F9 is not significantly linked to the FRAX-MR locus while the three distal probes F8, DXS52 and DXS15 show linkage. These probes could be used in the diagnosis of FRAX-MR in those families that do not show evidence for recombination. Used in conjunction with the fra (X) analysis, the segregation studies with these probes should improve the genetic counselling of the FRAX-MR syndrome and should be useful for the genetic and molecular analysis of this unique disease.
Chromosome Fragile Sites↗
Chromosomal aberrations in mildly mentally retarded children in a northern Swedish county.
Few studies of the frequency of chromosomal aberrations in an unselected material of mildly mentally retarded children have been published. The present paper summarizes the chromosomal abnormalities in children with mild mental retardation (MMR) in Västerbotten in the northernmost part of Sweden. Chromosome analyses were carried out by routine methods. In addition, children whose MMR had no clear diagnosis or cause were investigated as regarding X-chromosomes with a fragile site and selected cases with banding techniques. Every mentally retarded child born between 1959 and 1970 in the county of Västerbotten was traced. Out of a total number of 40,871 individuals, 171, i.e. 4.2 per 1,000, were found to be mildly mentally retarded. Chromosomal aberrations were seen in 11.9% of the children with MMR, compared with 39.1% of the 161 children with severe mental retardation (SMR) in the same population. The proportion of cases with mental retardation of unknown etiology is high, especially amongst those with MMR. The use of high resolution banding and other modern cytogenetic methods should reduce this figure.
Chromosome Aberrations↗
Familial Menière's disease: a genetic investigation.
Familial forms of Meniere's disease in which the main etiologic factor is probably genetic are described. Among ninety-one patients with Meniere's disease from the county of Uppsala, the disease could be classified as being of familial origin in 14%. Different modes of inheritance were revealed. Aberrations in chromosome 7 were found in one mother and her daughter.
Chromosome Aberrations↗
[Diagnosis and treatment of fetal congenital adrenal cortex hyperplasia].
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Adrenal Hyperplasia, Congenital↗
Paternal non-disjunction in a 46,XY/47,XXY individual with a fragile 17p12 in the mother.
In a family where the mother carried a fragile site at 17p12, RFLP-analysis with the X-specific probe L1.28 showed that the 46,XY/47,XXY mosaicism detected in her Klinefelter son was due to a non-disjunctional event in paternal meiosis I, followed by a secondary loss of an X-chromosome by a mitotic non-disjunction. Thus, an association between the primary meiotic non-disjunction and the presence of the fragile site could be excluded.
Adolescent↗
Analysis of fragile X-mental retardation families using flanking polymorphic DNA probes.
Fragile-X mental retardation (FRAX-MR) is one of the more common X-linked disorders affecting 1 in 1,500 newborn males. This disease is characterized by the expression of fragile site in the region q27.3 of the X-chromosome of affected boys when their lymphocytes are cultured in folate deficient medium. In most patients there is macroorchidism postpubertally. The clinical diagnosis of carrier females based on the expression of fragile site in Xq27.3 is usually difficult and sometimes impossible. About half of the carrier females escape diagnosis by this method. Furthermore, prenatal diagnosis is not always feasible. Using Restriction Fragment Length Polymorphism (RFLP) and cloned DNA segments from the region Xq27-Xqter as probes, we have investigated Swedish families with FRAX-MR in three generations. Interesting observations, previously unreported to our knowledge, have been made in some patients and carrier mothers, using one of the probes which is localized to the distal end of Xq. The significance of these findings and the linkage of the disease locus to the different probes used in this study is presented.
DNA↗
Deleted ring chromosome 22 in a mentally retarded boy.
A mentally retarded boy with a ring chromosome 22, where most of band q13 was deleted, is reported. The fact that the leucocyte beta-galactosidase and alpha-galactosidase B activities were normal, but the arylsulphatase A activity only half of the normal is consistent with a gene dosage effect and that the arylsulphatase A locus is located more distally, than the gene loci for the other two enzymes, in the deleted part of 22q13.
Adolescent↗
Mental retardation in a North Swedish isolate.
Twenty-six mentally retarded patients from a North Swedish geographically isolated population were studied. The mentally retarded patients were short with pycnic body type. Neurological and psychiatric stigmata of variating functions and degrees were recorded. Neurogenic hearing defects, impaired vision, pathological EEG, widened subarachnoidal space found in CT, were among these stigmata. In three patients a urinary substance, probably urocanyl-glycine, was found. The erythrocyte uroporphyrinogen-I-synthetase activity was high in four patients. Chromosome analysis showed some abnormalities which, however, were not systematically present. In the near family 23 persons with schizophrenia were found. The relationship between the mental retardation and the schizophrenic psychosis in the present families has not been explained. Further studies are called for to elucidate the genetic and environmental factors responsible for the two conditions.
Female↗
A trial of selenium and vitamin E in boys with muscular dystrophy.
The administration of selenium and vitamin E was tried in a group of 20 boys with muscular dystrophy. Muscular strength was measured at intervals of 6 months. The boys were treated for 1 year (selenium 6 micrograms/kg for 6 months and 20 micrograms/kg for 6 months), followed by 1 year of no treatment. The whole series was completed in 16 boys, nine of whom had classical Duchenne muscular dystrophy and the rest who had more benign variants. No boy showed any side effects. The decrease of muscle strength was slightly more rapid during the second year (no treatment) than during the first year (with treatment) of the trial. The difference was, however, slight and could conceivably be explained by the increase of age. No boy showed any practically usable increase of muscle strength during the year of treatment. The minimal muscle strength required for walking is presented.
Adolescent↗