bluuebunny/crossref_metadata_2025_split huggingface dataset:
Genetic and clinical aspects of Charcot‐Marie‐Tooth's disease
Authors: Skre H. 
Published: July 2010

The prevalence of Charcot‐Marie‐Tooth's disease (CMT) was studied in Western Norway, an area with several isolated districts with a population of 725,000 (1968). Three hereditary types were distinguished in the area: autosomal dominant CMT with an estimated prevalence of 36/100,000; X‐linked recessive CMT with a prevalence of 3.6/100,000; and autosomal recessive CMT with a prevalence of 1.4/100,00. Gene frequencies were 3 · 7. 10‐4, 1 · 9. 10‐4, and 4 · 8. 10‐4 in autosomal dominant, X‐linked, and autosomal recessive CMT, respectively, while the corresponding mutation rates were 13 · 0, 5 · 5, and 3 · 5 per million gametes per generation. The penetrance was almost complete for all three variants of CMT.Strict diagnostic criteria were followed in the selection of the 37 index cases. A family investigation was carried out with 238 subjects, during which 69 secondary cases were detected. Another 57 subjects had unspecific neuropathy (Un), which did not fit a diagnosis of CMT or other neurological disease. In the diagnosis of Un, a score system was used, with age and sex corrections based on findings in a normal population.Generally, the most severe disease course was found in the recessive CMT types, but there was also more clinical variation, suggesting CNS involvement in some cases (upper motor neuron affection, cerebellar signs). Scoliosis and spinal ataxia were not infrequent, even in cases with autosomal dominant CMT.The prevalence cf Un was highest in the relatives of recessive CMT cases, with a ratio of affected to normal in sibs compatible with a hypothesis of several cases of heterozygous manifestation. In the relatives of autosomal dominant CMT cases, Un prevalence was also higher than in the population, but lower in 2nd degree relatives than in 1st degree; the ratios fitted a hypothesis of polygenic Un inheritance. Significant differences were found in the score patterns of Un in the recessive CMT families and in the autosomal dominant families, suggesting their difference of origin. The reason for clustering of Un cases in autosomal dominant CMT families is obscure, since it can be only partly attributed to early manifestation of CMT. It is suggested that Un and CMT, mainly in autosomal dominant CMT, interact to form a spectrum of differing phenotypes, so explaining the problem of “transitional forms” between CMT and other hereditary nervous disorders. Recessive CMT, being a more generalized nervous disease, attains, through differing expressivity, phenotypes which vary between individual cases.
Hereditary spastic paraplegia in Western Norway
Authors: Skre H. 
Published: July 2010

In Western Norway, two types of hereditary spastic paraplegia (HSP) were found: one type segregating as an autosomal dominant, and the other type behaving as an autosomal recessive trait. Within the last category, an infantile type might be defined, with more marked CNS affection than usual (dementia, epilepsy, cerebellar signs). In two of five families with autosomal recessive HSP, retinitis pigmentosa was found in the affected persons. Muscular atrophy was frequently found in both types of HSP, but was more pronounced in the recessive form. Cerebellar signs and cerebral/mental dysfunction also occurred relatively frequently in recessive cases.In three kindreds where HSP segregated as a dominant trait, 38 family members were examined. Of these, 23 were affected, four had unspecific neuropathy (Un), and 11 were unaffected. In five families where HSP behaved as a recessive trait, 61 family members were examined. Eleven were affected, 19 had Un, and 31 were unaffected. In the diagnosis of Un, a score system was used recording all types of neurological sign. The scores were corrected for age and sex differences based on findings in a normal population.Estimated prevalence in the area studied was 12/100,000 for autosomal dominant HSP and 2/100,000 for autosomal recessive HSP. There was a high consanguinity rate in the recessive families, so the prevalence here does not reflect the general gene frequency, which was estimated to be 1 · 2.10‐4 (9.7.10‐5 in dominant HSP). The distribution of Un in HSP families suggested different etiologies. Ratios in the recessive HSP families indicated Un to be a heterozygous manifestation. The prevalence in dominant families fitted the hypothesis that Un occurs here as a polygenic trait. Clinical differences in Un also supported these conclusions.
Longer Y chromosome in criminals
Authors: Soudek D. , Laraya Parvaneh 
Published: July 2010

In 84 male criminals without obvious psychiatric problems, the Y chromosomes were measured and compared with Y chromosomes of 38 staff men of a psychiatric hospital. There were significantly (P < 0.025) more long Y chromosomes in prisoners than in controls. Both the fluorescent and non‐fluorescent segment of Y were involved in the increase.No case of XYY or Y chromosome with atypical structure was found.
Lp(a) lipoprotein and pre‐β1‐lipoprotein in patients with coronary heart disease
Authors: Berg Kåre , Dahlén Gøsta , Frick M. Heikki 
Published: July 2010

Certain properties of the atypical serum lipoprotein, referred to as pre‐β1‐lipoprotein, suggested that it might be identical to the lipoprotein carrying the Lp(a) antigen: Lp(a) lipoprotein. Both lipoprotein phenomena are under genetic control and occur in a certain proportion of healthy people. Pre‐β1‐lipoprotein occurs more frequently in patients with coronary heart disease (CHD) than in the healthy population.The present study of Finnish CHD patients was undertaken to investigate whether a close relationship could be revealed between pre‐β1‐lipoprotein and Lp(a) lipoprotein, as well as between Lp(a) lipoprotein and CHD. Both expectations were realised, and we conclude that pre‐β1‐lipoprotein is very closely related, if not identical to Lp(a) lipoprotein.If the present results are confirmed in future studies, serum analysis for Lp(a) lipoprotein/pre‐β1‐lipoprotein may become a useful tool for the identification in early life of members of a subpopulation which is particularly at risk for developing CHD.
Genetic and clinical relevance of haemoglobins screening: Results from a survey in a paediatric hospital
Authors: Vidal H. , Hernandez A. , Colombo B. 
Published: July 2010

A screening for abnormal haemoglobins was carried out on the patients admitted to a Childrens Hospital during a 16‐month period using a rapid electrophoretic technique, with the purpose of finding the prevalence of HbS carriers. The results of this study show that the Cuban population has a high percentage of heterozygotes for HbS. The importance of such a screening for medical care is discussed.The frequency of abnormal “rare” haemoglobins found during the course of this survey is also given.
The neck in the XO and XX/XO mosaic Turner's syndrome
Authors: Felix Annette , Capek Vlastimil , Pashayan Hermine M. 
Published: July 2010

An attempt to document both the clinical appearance of the neck and the roentgenographic findings of the cervical vertebrae in 15 cytogenetically diagnosed cases of the Turner syndrome rcvealed the following findings: 11 had webbed necks, 13 patients had short necks, and of those, 10 had a short and webbed neck. Fourteen patients had a low hairline, of those, three had a short neck and a low hairline. Ten patients had a webbed and a short neck with a low hairline.Twelve patients had hypoplastic cervical vertebrae, of whom eight showed hypoplasia of all the cervical vertebrae and four showed hypoplasia of one or more cervical vertebrae.
Probably monozygotic twins with discordance for Goldenhar syndrome
Authors: Papp Z. , Gardó S. , Walawska I. 
Published: July 2010

Discordance with respect to the Coldenhar syndrome is reported in twin sisters presumed to be monozygotic on the basis of placentation and blood group studies.In the development of the embryopathy, environmental factors may have played a significant role.
Application of a quantitative scoring system in the investigation of some hereditary neurologicaI disorders
Authors: Skre H. 
Published: July 2010

A scoring system for neurological signs based on the clinical examination was applied to a randomized population sample of adults and to three kindreds with hereditary neurological disease. To achieve qualitative properties of the system, nine subtests were defined, each constituting major functional units of the status. Age and sex differences in scores were corrected through the use of score prevalence figures in the normal population. Corrected wore distributions within subtests were rcmarkably simmilar, and justified their summation to a sum score.About 95 % of the population sample had sum scores under 3.5, which was defined as the limit of normality.In the kindreds examined, an unexpectedly large number of persons had “unspecific neuropathy”, i.e. high sum scores without the full clinical picture of the main disease. Various interpretations of this phenomenon are discussed.
A woman with multiple congenital anomalies, mental retardation and mosaicism for an unusual translocation chromosome t (6;19)
Authors: Pallister P. D. , Patau K. , Inhorn S. L. , Opitz J. M. 
Published: July 2010

A mentally retarded woman with multiple congenital anomalies is described.Her fibroblasts had a normal female chromosome complement, but in virtually all lymphocytes there were only 45 chromosomes, one no. 6 and one no. 19 having joined with their short arms. The two terminal deletions may have been submicroscopically small. Whether they had caused the clinical anomalies remains an open question.The translocation chromosome had only the primary constriction of no. 19, although no deletion in the centromere region of no. 6 could be detected even with centric staining. This appears to be the fourth well analyzed case of a large translocation chromosome that Seems to be dicentric with one centromere inactivated.The point of union of nos. 6 and 19 sometimes showed very unusual features: conspicuous bending of chromatids, a change in their thickness from the thinner no. 19 to the no. 6 component, and (to be described in detail elsewhere) chromatid breakage separating the two components (about once in 730 cells). Conceivably, the original breaks may both have occurred within telomeres.
Incidence of chromosome aberrations in a child psychiatric hospital
Authors: Christensen K. R. , Nielsen J. 
Published: July 2010

During a 3‐year period a total of four boys with sex chromosome abnormalities was found among a total of 157 boys admitted to a child psychiatric hospital, giving an incidence of 2.6 % compared with the expected 0.3 % from studies in newborn populations (P (Fisher) = 0.0048). The incidence of chromosome abnormalities in the 71 girls admitted to the hospital during the 3‐year period and among all 514 out‐patients was not higher than expected.The frequency of chromosome variants in a 1‐year incidence study of 240 children was 10.4 % compared with 1.7% among 5,049 newborn Danish children (α2= 83.539, P< 0.001).The two types of marker chromosomes found to a significantly higher extent than in the newborn population were enlarged satellites on a G chromosome and large Y. Our findings indicate that children with these marker chromosomes may have an increased risk of mental disorders.
Idiopathic haemochromatosis: An autosomal recessive disease
Authors: Saddi R. , Feingold J. 
Published: July 2010

A genetic analysis of 96 pedigrees has confirmed our previously published report and demonstrated an autosomal recessive mode of inheritance for idiopathic haemochromatosis.Three generations have been analyzed in each family: the sibship of the patient; the parents of the patient; the offspring of the patient. All the data are consistent with a recessive autosomal transmission: (1) An increased rate of consanguineous matings was found among the parents of the patients. (2) Not a single patient having the disease (latent or manifat) was found among either the parents or the children of the probands. (3) Three distinct levels of iron stores ‐ normal, slightly increased and heavily overloaded ‐ have been statistically separated in the haemochroma‐totic families. (4) The result of a segregation analysis has shown a percentage of parsom with heavy iron overloads per sibship corresponding to that expected for a recessive autosomal transmission, taking into account a penetrance of 0.20 in the female (the estimate used in this study).
Idiopathic haemochromatosis and diabetes mellitus
Authors: Saddi R. , Feinoold J. 
Published: July 2010

The separate influences of familial factors and of iron overload on the occurrence of diabetes in idiopathic haemochromatosis (I.H.) have been re‐examined by means of a genetical analysis.The prevalence of overt diabetes was measured in the parents of 96 patients suffering from I.H., either associated (H.D.) or not (H.D.) with diabets mellitus (D). Twelve out of 132 parents of H.D. patients had diabetes without iron overload, a percentage similar to that reported for the parents of patients with maturity onset diabetcs without haemochromatosis. For (H.D.) patients the prevalence of parental diabetes was nil and very close to that encountered for the same age group in the general population. The difference between the prevalence rates in the two groups was significant (P < 0.05).The magnitude of the iron was found to be similar in the two groups. The age at diagnosis did not differ. This suggests that iron overload (i.o.) is not the only causal factor in diabetes occurring in I.H.It was therefore concluded that diabetes mellitus in haemochromatotic patients is genetically determined per se, and that iron overload, through siderosclerotic damage of the pancreas, permits the recognition of an underlying “susceptibility” to diabetes.Further, the suggestion of an incidence of diabetm, in parents of H.D. versus H.D., higher than could be predicted from the multifactorial transmission theory for diabetes mellitus itself, led to the hypothesis that the mutated “h” gene, responsible for the iron overload characterising I.H. in hmozygotes, contributes in the heterozygwus state to the expression of diabetes.
The relation of the sex of choreic and rigid subjects to the age at onset of Huntington's disease
Authors: Brackenridge C. J. , Chamberlin M. 
Published: July 2010

In a series of non‐adult cases of Huntington's disease largely ascertained from the literature, the male sex‐ratio increased linearly with onset age from 0.5 in the 0–5 years age‐group to 1.15 in the 16–20 years age‐group. When cases were separated according to the presence or absence of muscular rigidity, the same effect was observed among rigid subjects; the mean onset age for males significantly exceeded that for females.In the absence of rigidity, typically choreic cases showed a different type of sex variation with age of onset. The crescent‐shaped curve found was accentuated in those who inherited the disorder from their fathers so that females exceeded males over most of the reproductive period. The converse tended to apply to cases of maternal descent. A later onset age of maternal than paternal cases was found to be associated with this parental difference. It was speculated that hormonal factors may play a part in determining the sex differences observed.
Frequency and segregation of 16qh+
Authors: Nielsen J. , Friedrich U. , Hreidarsson Á. B. , Zeuthen E. 
Published: July 2010

The frequency of 16qhk among 2,548 individuals in various psychiatric institutions was 1.2 per 1,000, compared with 1.0 per 1,000 in 6,164 individuals found in the general population.The enlargement of chromosome No. 16 appeared, in all cases, to be due to enlargement of the heterochromatic secondary constriction area in the long arm of chromosome No. 16.The observed segregation rate of 16qhf (57 %) did not deviate significantly from that expected. There were no indications of an increase in mortality among the progeny of the 16qh+ carriers, and there was no increased frequency of abortions in carriers. No association was found between 16qh+ and any physical or mental disorders.
Familial neuromuscular disease with “myotubes“
Authors: Meyers K. R. , Golomb H. M. , Hansen J. L. , McKusick V. A. 
Published: July 2010

Van Wijngaarden et al. (1969) described a “myotubular myopathy” in a Dutch family, of which six male members were affected, indicating a recessive X‐linked mode of transmission. They also thought that the morphology of a case reported by Engel et al. (1968) resembled that seen in their family.The present case is a male sib of the patient reported by Engel and colleagues, who has similar clinical and morphologic features to his brother, and who died at 7 months of age. Muscle enzyme histochemistry of a quadriceps biopsy revealed that most type I fibers were small and had central pale areas or plump nuclei. A smaller percentage of type II fibers also showed the same features. Biopsies of muscle from the mother and father were histologically normal including fiber type composition. Karyotypic analyses, not reported in earlier cases, were performed on the family and showed no abnormalities in modal number or of individual chromosome structure. Pedigree analysis suggests an X‐linked recessive inheritance pattern in this family.
Congenital dislocation of the hip joint in Norway V. Evaluation of genetic and environmental factors
Authors: Bjekkreim Ingjald , Van Der Hagen Carl Birger 
Published: July 2010

The incidence of congenital dislocation of the hip joint (CDH) in Norway is high. Environmental factors and familial occurrence of CDH have been studied in 1147 probands with neonatal CDH and in 784 probands with late‐diagnosis CDH. The proportion of affected sibs was 6 per cent in neonatal CDH and 8.5 per cent in late‐diagnosis CDH. In 51 families, patients with neonatal CDH had sibs with late‐diagnosis CDH, most of whom had been screened for CDH in the neonatal period. The distribution in families was computable with a polygenic mode of inheritance, and the heritability of CDH was calculated to be 74 per cent.Breech presentation, the most important environmental factor, was observed in 15.7 per cent of the neonatal and in X.3 per cent of the late‐diagnosis cases. A significant seasonal trend in month of birth was found in late‐diagnosis CDH, with a maximum in early October. A higher percentage of birth rank one was found in CDH, but this was mostly due to an association between birth rank one and breech presentation. Probands with familial occurrence were significantly more often severely affected than those with no affected relatives. When several environmental factors were present in the history of a proband, the disorder tended to be more serious, and a familial occurrence of CDH was less likely. Concomitant anomalies were frequently found in CDH.
Spino‐cerebellar ataxia in Western Norway
Authors: Skre H. 
Published: July 2010

The cerebellar ataxia of Marie (SCA) was investigated in Western Norway, a region with a population of 725,000, and with several isolated communities. Two modes of transmission were found: autosomal dominant SCA segregating in four families, and autosomal recessive SCA segregating in nine families. Within the second category, two distinct clinical types were observed. One exhibited ataxia with additional spinal involvement, including both upper and lower motor neuron affection and sensory disturbances. In some cases there were also ophthalmoplegias, dementia, epilepsy, and Parkinsonian signs. The other type exhibited mostly ataxic signs with little additional spinal involvement, but with dementia, epilepsy, and ophthalmoplegias in some cases, and occasionally hyperkinesia and optic nerve atrophy. The autosomal dominant SCA cases showed a varied spino‐cerebellar symptomatology, but lacked ocular signs and had less mental disturbances than recessive SCA. Additionally, the disease course was more benign in autosomal dominant than in autosomal recessive SCA. The dominant form did not affect life expectancy, whereas autosomal recessive SCA considerably reduced the life span.In four families displaying autosomal dominant SCA, 32 persons were examined: 11 were affected, 10 had unspecific neuropathy (Un), and 11 were unaffected. In six families with autosomal recessive SCA of the spino‐cerebellar type, 53 persons were examined, of whom 11 were affected, 14 had Un, and 28 were unaffected. In two families (the third has been described elsewhere) with autosomal recessive SCA of the cerebellar type, 57 persons were examined: 12 were affected, 19 had Un, and 26 were unaffected. In the diagnosis of Un, a score system was used to record all types of neurological signs. The scores were corrected for effects of age and sex, based on findings in a normal population.The estimated prevalence figures in the region investigated were: 3.2/100,000 for autosomal dominant, 1.8/100,000 for spino‐cerebellar autosomal recessive, and 1.2/100,000 for cerebellar autosomal recessive SCA; the gene frequencies were 3.9.10‐5, 2.5.10‐3, and 4.8.10‐4, respectively. The distribution of Un in SCA families indicated different aetiologies. Ratios in the recessive SCA families were compatible with Un sometimes representing a heterozygous SCA manifestation. The prevalence in dominant SCA families fitted with a hypothesis that Un behaved here as a polygenic trait. Clinical Un differences also supported these contentions. Un polygenes are assumed to be important contributors to the inter‐ and intrafamilial variation of phenotypes in autosomal dominant SCA.
Prenatal diagnosis: detailed chromosomal analysis in 500 cases
Authors: Atkins Leonard , Milunsky Aubrey , Shahood Jacqueline M. 
Published: July 2010

State School, Waltham; the Departments of Pediatrics and Pathology, MassachusettsGeneral Hospital and Harvard Medical School, Boston, Massachusetts, U.S.A.Cytogenetic findings in 500 amniotic fluid cultures are presented. The problems of mosaicism, fragmentation, polyploidy and hypo‐ and hyperdiploidy are discussed. A total of 18 abnormal karyotypes was found.
Genetics of obstetrical variables. A study from the collaborative perinatal project*
Authors: Naylor Alfred F. , Warburton Dorothy 
Published: July 2010

Several obstetric variables were examined for genetic correlation in data from more than 8200 women (roughly 60 % black and 40 % white) linked into about 3200 family groups by birth or marriage and registered in the Collaborative Perinatal Project. Sister‐in‐law pairs yielded estimates of non‐genetic and spurious correlations which were generally absent or low. Pairs of sisters, mothers and daughters, half sisters, first cousins, and aunts and nieces were compared; such relatives were also compared in certain combinations of three. Familial correlation was present for age at menarche and durations of stages 1 and 3 of labor. None was found for gestation time of livebirths or for stage 2 of labor. A significant sister correlation for diagonal conjugate (size of pelvic inlet) was apparent in the white, but not the black, sample.No families had two or more occurrences of the infrequent conditions: thrombosis, infertility diagnosis, incompetent cervix, leiomyoma, hyperemesis gravidarum, hydramnios, placenta praevia, or prolapsed cord. Familial correlation was significant for fetal death risk, but not for bleeding during pregnancy, abnormal presentation of the fetus, abruptio placentae, breast abnormalities and hypertension. Familial associations for anemia, postpartum hemorrhage, varicose veins and albuminuria were significant in the black data, but not in the smaller white sample. There was a positive, but non‐significant, association of toxemia in sisters.