bluuebunny/crossref_metadata_2025_split huggingface dataset:
Meiosis and spermatogenesis in two postpuberal males with Down's syndrome: 47, XY, G+
Authors: Kjessler Berndt , Chapelle Albert de la 
Published: July 2010

Meiotic chromosomes and testicular histology were analysed in two postpuberal males with Down's syndrome. Both patients had the karyotype 47,XY,G+ without evidence of mosaicism. Complete spermatogenesis was demonstrated in both patients with normal or near normal testicular morphology. Meiosis was regular with the presence of two cytologically distinct classes of primary spermatocytes at diakinesis and metaphase I. Cells with 23 and 24 meiotic chromosome bodies were recognized in both patients. Trivalents could be neither identified nor excluded. Primary spermatocytes with 23 chromosome elements may either contain the supernumerary G‐chromosome in a hidden, e.g. trivalent, state or they may be truly normal due to previous elimination of the extra chromosome. In cells with 24 chromosomes a univalent G‐chromosome was tentatively identified.The clinically observed subfertility or sterility in mongoloid males is probably explained by a multitude of contributory factors, chief among which are an impaired postmeiotic maturation process and the general unfitness consistent with Down's syndrome.
Achondroplasia and thanatophoric dwarfism in the newborn
Authors: Harris R. , Patton J. T. 
Published: July 2010

Out of a total of 64,000 births in St. Mary's Hospital, Manchester, 17 were originally diagnosed as having achondroplasia. When the diagnosis was reviewed, 10 of these infants proved to be thanatophoric dwarfs, 3 had inherited achondroplasia, 1 was apparently a mutant achondroplastic, while 3 others had other forms of non‐achondroplastic chondrodystrophy. All 10 thanatophoric dwarfs but only one other child in the series were still‐born. It is concluded that both the birth rate and the perinatal mortality rate for achondroplasia are much lower than was previously believed.The clinical features of 10 infants with thanatophoric dwarfism in this series are reviewed and a high incidence of associated defects noted. There was an excess of affected males and one pair of affected sibs occurred suggesting autosomal recessive inheritance, with sex‐limitation or early loss of female embryos, in thanatophoric dwarfism.The implications of this diagnostic heterogeneity are important in counselling parents of apparently achondroplastic infants.The necessity for postulating a high mutation rate to the achondroplasia gene depended upon the assumption that about 80% of such infants died. The results reported here have suggested that most of this mortality is accounted for by thanatophoric dwarfs and consequently it is no longer necessary to postulate a mutation rate greater than 1:100,000 at most in achondroplasia.
Autosomal dominant inheritance in Larsen's syndrome
Authors: Harris R. , Cullen C. H. 
Published: July 2010

Larsen's syndrome inclucling bilateral dislocation of the knees, pes cavus, cylindrically shaped fingers, and a characteristic facial appearance is described in a mother and daughter. The mother's father may also have had some of the features of the syndrome.Previous reports of cases of Larsen's syndrome have involved only sporadic cases or affected siblings. It seemed likely that the syndrome was inherited as an autosomal dominant trait in this family.
The adducted thumbs syndrome
Authors: Christian Joe C. , Andrews P. A. , Conneally P. M. , Muller Jans 
Published: July 2010

Four children with similar anomalies inclucling cleft palate, arthrogryposis, craniostenosis, swallowing difficulties, and microcephaly are presented. Three of the four are Amish and trace back to a single pair of common ancestors. Neuropathological studies of one affected infant, who died at 18 days of age, revealed dysmyelination with excessive myelin‐dependent gliosis, myelin solubilization, and transient formation of phospholipid‐containing plaques on the surface of the central nervous system during formalin fixation.All four affected individuals had thumbs flexed and adducted across the palms, leacling to the suggestion that “Adducted Thumbs Syndrome” be used to identify this autosomal recessive disease until the basic genetic defect is further characterized.
Congenital chloride diarrhea, an autosomal recessive disease
Authors: Norio R. , Perheentupa J. , Launiala K. , Hailman N. 
Published: July 2010

Congenital chloride diarrhea (CCD) is a persistent, life‐thieatening watery diarrhea with a uniquely high chloride concentration of stool water. It is manifested prenatally hy hydramnios. Evidence was sought to substantiate its genetic transmission as an autosomal recessive trait.Genetic data on 12 families reported from outside Finland and 11 evident and 3 probable families in Finland are discussed. The occurrence was familial in at least 5 sibships. No sex‐specificity was found. The corrected proportion of affected siblings was 0.18 ‐0.29 (extreme possibilities of ascertainment). The parental marriage was consanguineous in 3 evident and 3 probable families, and 17 out of 27 known parents were shown to be consanguineous with 1 ‐8 other CCD parents. The ancestors were unevenly distributed geographically, originating mainly from the eastern parts of Finland. These findings, taken with the peculiar population structure of Finland, constitute distinct evidence for the autosomal recessive mode of transmission of CCD.The name congenital chloride diarrhea is advocated.
Similarity in amino acid composition between human serum lipoproteins and histocompatibility antigens on cell membranes
Authors: Berg Kåre 
Published: July 2010

Compositional relatedness appears to exist between human histocompatibility antigens and the protein part of Lp(a) lipoprotein and low density lipoprotein of human serum. Evidence for this emerged in a comparative analysis of amino acid composition by the statistical method of Metzger et al. The difference indices obtained were considerably lower than those reported previously from comparisons of apparently unrelated proteins and also lower than those from control analyses conducted in the present study.The Lp(a) lipoprotein appeared to be closely related also to murine H‐2 antigen.The results support the concept of a relationship between human serum lipoproteins and histocompatibility antigens on cell membranes.
See‐saw winking in a familial oral‐facial‐digital syndrome
Authors: Sugarman Gerald I. , Katakia Madhu , Menkes John 
Published: July 2010

This paper reports an unusual disturbance of blinking and of eye movements in a 3‐year‐old child with a previously unreported syndrome of malformation and mental retardation. The eye abnormalities consisted of hypertelorism, antimongoloid slanting of the palpebral fissures, bilateral ex‐otropia, and ceaseless winking of the eyelids described as “sec‐saw winking”. The syndrome consisted of the eye abnormalities, lobulated hamartomatous tongue, dental abnormalities, bifid uvula with a normal palate, postaxial hexadactyly of the hands and feet, pectus excavatum, short sternum, kyphosis, and profound motor‐mental retardation. A sister was similarly affected, without the described abnormal eye movements.This syndrome differs from the oral‐facial‐digital syndromes I and II in the absence of oral frenula and clefts and hypoplasia of the alae nasi and in the type of Polydactyly, clinodactyly, and syndactyly.
The relation of type of initial symptoms and line of transmission to ages at onset and death in Huntington's disease
Authors: Brackenridge C. J. 
Published: July 2010

To determine whether the age at onset and age at death were related to the type of initial symptoms of Huntington's disease, analyses of variance with respect to (A) order of appearance of neurological and psychiatric symptoms, (B) type of muscular disorder (chorea or rigidity), (C) sex of affcctcd subject, (D) sex of transmitting parent, and (E) sex of transmitting grandparent were calculated. Agc at onset and age at death were each significantly affected by order of symptoms, neurological sign, sex of subject, and sex of affected parent. The duration of illness depended only on the order of neurological and psychiatric symptoms.Fathcrs exceeded mothers as transmitting parents of sibships with one or more affected subjects. The proportions of the four parental‐grandparental lines of transmission differed significantly among subjects grouped according to type of first symptoms but not according to muscular signs. The ratio of choreic to rigid cases varied significantly with the order of symptoms and sex of the subject.The earlier ages at onset and death of subjects with Westphal (rigid‐hypokinetic) symptoms than those with typical choreic movements confirm the validity of distinguishing between these variants of the disorder.
Another variant in the C 3 system
Authors: Teisberg Pek 
Published: July 2010

A variant band in the C 3 system has been found in four members of onc Norwcgian family. By direct comparison the band was found lo migrate anodally to all earlier describcd C 3 bands on high voltage agarose gel electrophoresis. It is highly probable that the band represents a new allele at the C 3 locus, C 3F1.2.The C 3 content of all variant‐containing sera of the family was found to be normal.
Discriminating between different modes of inheritance in genetic disease
Authors: Smith Charles 
Published: July 2010

A genetics program library (Morton 1969a) was used to study the problem of discrimination between different modes of inheritance in genetic disease. Data were generated on familial frequencies and on the distribution of affected sibships by a two‐allele single‐locus model and the goodness of fit was tested hy a multifactorial model to the data and vice versa.The singlelocus model is very flexible and can f i t multifactonal data well except when the frequency is very low and the heritability is high. The multifactorial model gives a poor fit in simple Mendelian‐like situations, but the fit improves as the parameters of the singlelocus model become less Mendelian. In general it will be difficult to discriminate between models of inheritance with the types of data and forms of analyses studied. Even segregation analysis does not seem critical in discrimination, but ra!her serves to confirm the results derived from the familial frequency data. In practice, with sampling errors, ascertainment biases, mortality, variable onset age, heterogeneity, and many other complicating factors, discrimination between different modes of inheritance is likely to be very difficult indeed.
Serum intestinal alkaline phosphatase, ABO blood group, secretor status, and lipaemia
Authors: Denborough M. A. , Prineas R. J. , Downing H. J. 
Published: July 2010

In 70 apparently healthy volunteers serum intestinal alkaline phosphatase activity was unrelated to both the fasting serum triglyceride concentration and the degree of rise of serum triglyceride level after a standard fatty meal. In addition no association was found between ABO blood group, secretor status, and the serum triglyceride concentration after a fatty meal.These findings suggest that the presence of intestinal alkaline phosphatase activity in serum, which is known to be related to ABO blood group, secretor status, and, the eating of fatty meals, is unrelated to the amount of fat absorbed by the intestinal cells.
Inheritance of Gm(g) and a gene complex GmaGmg weak
Authors: Gedde‐Dahl T. , Natvio J. B. , Gundersen Sidsel Kulsrud 
Published: July 2010

Gm(a) (x) (g) (f) (b1) were examined in 84 random Norwegian families with 444 children allowing direct estimates of the f,b, a,g, ax,g, and a,b (including a,b0b1, a,b0st, and f,b0b1) gene complex frequencies and an upper estimate of the f,g frequency. Phcnotype and mating type patterns were random (non–assortative).Disturbed segregation ratios were found in ax,g/f,b×f,b/f,b families irrespective of sex of segregating parents, and in families with a,g/f,b in backcross if segregating parents were separated by sex. In the latter case excess a,g from females was balanced by excess f,b from males, this trend being present also in two other Norwegian family materials (tested for Gm(a) (x) (b1)).Gm(n) was examined in part of the material, allowing approximate frequency estimates of the polymorphic f,b,n, f,b,n–, a,g,n–, and ax,g,n– and the idiomorphic ax,g,n, a,g,n, a,b0st,n– and a,b b1,n– (fa, b0b1 unassigned). The information on the IgGl–IgG3 and the IgGl, IgG3–IgG2 linkage relations were estimated.A family with familial low Gm(g) activity was observed and interpretations included a genetically linked cis–IgC3–suppressor gene in analogy with thalassemia genes as well as a structural allele mutation.
Studies on inherited antigenic variation of human serum β‐lipoprotein by passive hemagglutination
Authors: Boman H. , Lanzkowsky P. , Berg K. 
Published: July 2010

Sera from 39 unselected children with thalassaemia who had received multiple blood transfusions were examined for the presence of isoantibodies to β‐lipoprotein antigens. Precipitating antibodies were found in 8 sera. In 5 of these, additional non‐precipitating antibodies were detected by the passive hemagglutination method. In another 7 serum samples, only non‐precipitating antibodies were present. Thus, 15 out of 39 sera (38.5 %) contained isoantibodies to β‐lipoprotein antigens. This frequency of antibodies to β‐lipoprotein antigens in patients with thalassaemia is the highest ever reported for any group of multiply‐transfused patients.A total of 30 antibodies were found in these 15 sera.
Group‐specific component and haptoglobin distributions in schizophrenic states
Authors: Brackenridge C. J. , Jones I. H. 
Published: July 2010

The distributions of plasma group‐specific component (Gc) and haptoglobin (Hp) phenotypes of a large group of schizophrenic patients were compared with those of an unselected group of normal blood donors. Some appreciable differences in Hp phenotype frequencies were found, but there was no marked deviation from Hardy‐Weinberg expectation for either polymorphism. A significant negative regression of the proportion of schizophrenic Hp 2‐2 persons on age was observed.When schizophrenic patients were individually matched for sex, age and racial background with healthy persons, the previous results were reversed. A difference in Gc distributions was found but the Hp distributions reverted to normal, thus demonstrating the importance of adequate control groups in association studies.It was concluded that about 10 % fewer Gc heterozygotes and 5 % fewer Hp heterozygotes existed among the schizophrenic than the normal group. In view of the low fertility in schizophrenia, this may play a part in maintaining the balance of these polymorphisms in the general population. Acute illness, paranoid symptoms, age in excess of 40 years, single status, unemployment and lack of occupational skills appeared to be factors associated with the altered Gc distribution found in schizophrenia.
Haptoglobin distributions in Down's syndrome
Authors: Ball J. R. B. , Brackenridge C. J. , McKay H. , Pitt D. B. 
Published: July 2010

The distributions of plasma haptoglobin (Hp) phenotypes were determined in Down's syndrome and in a control group of persons with mental retardation due to causes other than Down's syndrome. There was a trend towards a lower proportion of Mongoloid hetcrozygotes than in the control group and this became significant when the data of series from England, Hawaii, Illinois and Victoria were pooled. When Mongoloids and control subjects from Victoria were individually matched for sex, age and country of birth, there was no appreciable difference in Hp types between the groups.Examination by analysis of variance showed that mean parental ages at birth of Mongoloid patients did not vary with haptoglobin phenotype, but a positive linear regression of the proportion of heterozygous males on maternal age was observed.
Down's syndrome in twins
Authors: Shapiro L. R. , Farnsworth P. G. 
Published: July 2010

Male twins concordant for Down's syndrome and female twins discordant for Down's syndrome were investigated. Both males have trisomy 21 (47, XY, 21 +), and their parents are normal. One of the female twins is mosaic for trisomy 21 (46, XX/47, XX, 21 +) and the other is normal (46, XX). On the basis of multiple parameters, it is suggested that both pairs of twins are mono‐zygous, including the female twins discordant for Down's syndrome.Once the underlying cytogenetic mechanisms are understood and elucidated, genetic counselling can be undertaken.
An abnormal large human chromosome identified as an end‐to‐end fusion of two X's by combined results of the new banding techniques and microdensitometry
Authors: Distèche C. , Hagemeuer A. , Frederic J. , Prqgneaux D. 
Published: July 2010

An abnormal large chromosome was described by Gouw et al. (1964) in the karyotype (46 X‐X?) of a patient presenting a Turner‐like syndrome. The structure of this abnormal chromosome, re‐studied with the new banding techniques (Quinacrine mustard fluorescence completed with micro‐densitometric recordings, modified Giemsa and centromeric stainings) appears to be the result of a fusion of two X chromosomes, short arms to short arms. This chromosome is not dicentric but C‐heterochromatin has been demonstrated on its long arms, at the probable centromeric region of the second X involved in the fusion.These findings, their relation to the clinical features and their possible mechanisms of formation, are discussed.
Correlation between colour vision disturbance and appetite for alcohol
Authors: Cruz‐Coke R. , Rivera L. , Varela A. , Mardones J. 
Published: July 2010

A sample of 150 male subjects was examined with a battery of colour vision tests (Ishihara, Hardy‐Rand‐Ritter, F‐M 100 Hue, and Pickford‐Nicolson anomaloscope), in order to analyze the distribution of colour vision disturbance in relation to the different types of appetite for alcohol (rejection, indifference, physiological, pharmacological and pathological).Results showed a highly significant association (P < 0.001) between blue‐yellow colour vision disturbances and pharmacological appetite either accompained by a pathological appetite or not.
Australia antigen and Down's syndrome
Authors: Shiono H. , Kadowaki J. , Kasahara S. , Nakao T. 
Published: July 2010

Tests for the presence of Australia antigen were performed on 175 patients with Down's syndrome, 84 of whom were non‐institutionalized, and 378 patients with mental retardation due to other causes.Au(1) antigen was detected in 9 (5.1%) of 175 patients with Down's syndrome and in 14 (3.7%) of 378 patients with other forms of mental retardation. The frequency of Au(1) antigen was 2.4% in 84 non‐institutionalized patients with Down's syndrome, and 7.7% in 91 institutionalized patients. The frequency of Au(1) antigen with Down's syndrome was lower on the average in Japan than in the United States or Germany, but similar to that found in Poland.Au(1) antigen was not detected in 43 mothers of patients with Down's syndrome.The mean duration of transient serum Au(l) antigen positivity in Down's syndrome was slightly longer than that of patients with other forms of mental retardation.The association of sGOT and sGPT value elevation with positive Au(1) antigen was not apparent in our studies.
8‐trisomy in the bone marrow. Report of two cases
Authors: CHAPELLE A. DE LA , SCHRODER J. , VUOPIO P. 
Published: July 2010

The extra C chromosome in bone marrow mitoses from two patients with haematological disorders was identified as a number 8 by modified Giemsa staining followed by quinacrine mustard fluorescence. One of the patients had intermittent severe pancytopenia and the other mild granulocytopenia and thrombocytopenia. In spite of their differences in symptomatology, our attention was drawn to certain similarities, the most noticeable of which was ineffective erythropoiesis.From these results and a case report published by others it was concluded that all 3 patients with C‐trisomy of the bone marrow in whom the extra chromosome had been identified, had 8‐trisomy. Hence 8‐trisomy may account for a significant proportion of all bone marrow C‐tri‐somies, as is the case in congenital C‐trisomy. While 8‐trisomy is not necessarily a primary event in the aetiology of the malignant condition, it is possible that it gives the cells an advantage over other cells, and that this allows the trisomic cells to selectively populate the bone marrow. It may also lead to certain similarities in the clinical pictures, such as pronounced ineffectiveness of erythropoiesis.
A case of classical maple syrup urine disease “Thiamine non‐responsive”
Authors: Wong P. W. K. , Justice P. , Smith G. F. , Hsia D. Y. Y. 
Published: July 2010

Leukocytes and skin fibroblasts from a patient with classical maple syrup urine disease (M.S.U.D.) contained virtually no branched‐chain keto acid decarboxylase activity. Those of his parents had approximately 50 % of normal activity, and those of his sister had normal activity.The patient was treated from the second week of life with a “synthetic diet”. At the age of 2 months, when the patient was completely free of symptoms, 20 mg of thiamine three times daily was given orally. On the second day of treatment, he was challenged with cow's milk. Within 12 hours he became irritable; within 24 hours he refused feeding and his urine had the characteristic odor of M.S.U.D. The symptoms became more marked with progressive increase of plasma branched‐chain amino acids.This classical M.S.U.D., like the intermediate type, did not respond to thiamine Iherapy.
Pure gonadal dysgenesis
Authors: Nielsen J. , Friedrich U. 
Published: July 2010

Chromosome examination with analysis of 500 cells in each of the three out of seven females with pure gonadal dysgenesis, who had the karyotype 46, XX, has been made in order to look for chromosome mosaics. The karyotype in two of the three was 46, XX as found from analysis of only 30 cells; one of them had, however, pericentric inversion of chromosome 1 in 2 of 500 cells.One patient had the karyotype 46, XX/46, XX,Dr with a ring D in 1.2% of the 500 cells analysed. The possibility that minor autosomal chromosome aberrations are aetiological factors in pure gonadal dysgenesis is discussed, and case histories of the three patients are presented.
Hypophosphatasia: screening and family investigations in an endogamous Hungarian village
Authors: Méhes K. , Klujber L. , Lassu G. , Kajtár P. 
Published: July 2010

A screening programme for hypophosphatasia was performed in a Hungarian village where a family with the disease had previously been observed. Consanguinity was known to be common in this area.198 schoolchildren were tested. As to physical signs, low serum alkaline phosphatase activity, and phospho‐ethanolamine excretion, 3 homozygotes and 12 heterozygotes of the juvenile type of hypophosphatasia were discovered among them. The families of the positive children were investigated; thus altogether 34 subjects were found to be affected by the disease.Tubular reabsorption of phosphates proved to be decreased in the homozygotes and in about half the heterozygotes.In 4 families a transition between hypophosphatasia and pseudohypophosphatasia, i.e. the typical clinical and biochemical picture without a low serum alkaline phosphatase level, was observed. This suggests that the two conditions belong to the same entity.