bluuebunny/crossref_metadata_2025_split huggingface dataset:
Mongoloid twins with 48 chromosomes (AA + A21XXY)
Authors: HUSTINX T. W. J. , EBERLE P. , GEERTS S. J. , BRINK J. TEN , WOLTRING L. M. 
Published: September 2007

SummaryA 7‐month‐old pair of mongoloid twins is described (one of which died) who both had 48 chromosomes with A A + A21XXY. The pair must have been an identical twin, who would develop Klinefelter's syndrome.L. E. Nijenhuis (Anthropogenetics Dept. Red Cross Blood Transfusion Laboratory, Amsterdam) informed us on the data of blood groups. We are indebted to E. D. A. M. Schretlen, paediatrician (Paediatric Clinics, R.C. University) for performing tibia puncture. Our thanks are due to W. G. van Aken (med. student), Miss M. A. W. Janssen and A. P. Jansen for valuable assistance in counting, analysing and technical help. Dr J. C. Seelen, M.D. (Gynaecological Clinics, R.C. University) gave valuable help in evaluating the preparations for Barr‐bodies.
A male with XXYY chromosomes
Authors: ELLIS J. R. , MILLER O. J. , PENROSE L. S. , SCOTT G. E. B. 
Published: September 2007

SummaryIn a survey of mentally retarded males with small testes, a man was found whose sex chromosome complement has been interpreted as XXYY. The family history gave no indication as to the origin of the anomaly and various possibilities are discussed. Non‐disjunction of the Y‐chromosomes at the second meiotic division in spermatogenesis combined with some other accident producing two X‐chromosomes in sperm or ovum is postulated. Clinical and pathological investigation revealed a number of physical peculiarities, including absence of most of the left epididymis associated with testicular atrophy. His stature is 6 ft. 5 in.The writers are indebted to many people who have helped them at different points in this investigation. They would like to take this opportunity of thanking Dr D. H. H. Thomas for granting facilities, Mr D. S. Morgan‐Jones for obtaining biopsy material, Drs J. Munro Sherriff and I. F. Sommerville for ketosteroid and other endocrine estimations, Miss M. Mann for preparing histological sections, Dr Sarah B. Holt for examining the finger ridge patterns, Miss B. J. Warland for obtaining the family history and Mr C. Payling Wright and Mr N. Bishun for technical assistance.
The genetics of diabetes: A study of 233 families of juvenile diabetics
Authors: SIMPSON NANCY E. 
Published: September 2007

SummaryThe number of diabetic parents among 374 living parents of juvenile diabetics was no greater than expected for their age (calculated from a population survey). The number of diabetic parents who were less than 40 years of age, however, was greater than that in the population.A similar comparison of the incidence of diabetes among 535 living sibs of juvenile diabetic propositi showed a tenfold increase of diabetes over that expected and one diabetic observed among 114 offspring of the propositi was greater than expected.A preponderance of sibs with an early age at onset was found for those sibs of juvenile diabetic propositi, over that found among sibs of adult propositi.The data indicate that the predisposition for diabetes at an early age is under genetical influence which is not compatible with the single gene hypotheses of recessive, intermediate or dominant inheritance. Genetic heterogeneity between juvenile and adult diabetes is suggested and discussed. Theories of multiple genes or modifying genes for age at onset together with a single gene for the predisposition of diabetes cannot be distinguished from the data.
Differences between families in the amount of salivary H substances*
Authors: PLATO CHRIS C. , GERSHOWITZ HENRY 
Published: September 2007

SummaryThe saliva ABO inhibition titres of the members of twenty‐eight 0X0 and ten BxO mating types were determined. The results of the examinations suggest that: (1) A precursor ‘H’ substance is formed by all secretors which is converted into A, B, or AB depending on the individual's blood group. (2) the titres of the H substance secreted by members of the same sibship and of the same blood group are very uniform (high intra‐class correlation) indicating genetic control over the amount of the soluble ABO substances secreted. A genetic hypothesis was put forward to account for these findings.
Familial transmission of a translocation between two chromosomes of the 13–15 group (Denver classification)
Authors: WALKER S. , HARRIS AND R. 
Published: September 2007

SummaryA family has been described in which the transmission of a translocation between two chromosomes of the 13–15 group can be traced through at least three generations. All balanced translocation carriers are apparently normal. A close approximation of a 1:1 ratio of carriers: normal has been found in the offspring from such translocation carriers, and this is compared with published data for the transmission of a 15/21 translocation associated with Down's syndrome. There is no conclusive evidence for the occurrence of trisomy in the family. The data suggest the absence of close linkage between the translocation and the ABO, Rhesus, MNS, ‘P’ and Duffy blood‐group loci.
On the possibility of segregation in the propensity to spontaneous abortion in the human female
Authors: JAMES W. H. 
Published: September 2007

SummaryA method has been described of studying distributions of spontaneous abortions. For illustration, it has been applied to data which admittedly are not entirely adequate. The data can be fitted neither by single binomial expansions, nor by negative binomials; but they can be fitted by a double binomial. The interpretation is offered that women segregate into a small group of abortion‐prone, and a larger group of abortion‐resistant women. It is hoped shortly to publish details of a study investigating whether proneness to abortion may be an hereditary trait.This work was supported by a Canadian Federal Mental Health Grant.
The dimorphism in human normal cerumen*
Authors: MATSUNAGA E. 
Published: September 2007

SummaryVarious aspects of the dimorphism in human cerumen have been described on the basis of the data collected mostly by Japanese investigators. It was shown that the ear‐wax types are apparently determined by a simple genetic mechanism, and can be used as a polymorphic system for both genetics and anthropology. Frequencies of the alleles for the ear‐wax types have been estimated for different ethnic groups. It was pointed out that the marked difference in the distribution of ear‐wax types among the major races is probably a consequence of natural selection having acted in a long course of evolution, and there may be some differences in the selective value between individuals with wet cerumen and those with dry. In view of the apparent association with axillary odour, it was suggested that the alleles for ear‐wax types may control certain metabolic processes, through which individuals with different types of oerumen may display different reactions to environmental changes. The need for future studies along this line is stressed.
Galactosemia: A study of twenty‐seven kindreds in North America*
Authors: WALKER FRANK A. , HSIA DAVID YI‐YUNG , SLATIS HERMAN M. , STEINBERG ARTHUR G. 
Published: September 2007

SummaryThe present paper reports on the enzyme studies performed on 421 individuals in twenty‐seven kindreds which include twenty‐nine sibships containing galactosemic individuals.By fitting normal curves to a group of known heterozygotes (parents) and normal controls, it was possible to establish exclusion limits for each group. The analysis indicates that most heterozygotes can be classified correctly on the basis of enzyme studies. The identification of heterozygotes confirms the previous suggestion that galactosemia is due to an autosomal recessive gene.In the galactosemic sibships, there was an excess of males over that usually seen in the white population at birth. This effect appeared to be present among both affected and unaffected children and was independent of birth order and parental age.
Family studies of urinary p‐aminoisobutyric acid excretion together with an examination of the urinary excretion levels of glycine, alanine, taurine, and glutamine amongst Chinese in Singapore
Authors: McEVOY‐BOWE E. 
Published: September 2007

Summary1. An investigation was carried out of the urinary excretion of β‐aminoisobutyric acid, glycine, alanine, taurine and glutamine amongst 109 Chinese living in Singapore.2. The frequency distribution histograms of excretion levels for the various amino acids indicated a well denned ‘high’ peak for β‐aminoisobutyric acid, whereas the other amino acids gave essentially unimodal distributions. The distribution histogram for β‐aminoisobutyric acid did not appear to be a bimodal one, as there was a fairly strong indication of a middle peak together with one or more lower ones.3. Subjects excreting 0–56 m‐moles of β‐aminoisobutyric acid/g. creatinine or more were considered to be ‘high’ excretors. The incidence of such subjects in the population sample taken was found to be 41‐3 %.4. An examination of the family data with respect to the segregation ratios for ‘low’ and ‘high’ excretors produced evidence in favour of the hypothesis that ‘high’ excretion of β‐amino‐isobutyric acid is determined by a single autosomal recessive gene (P > 0–3).A special acknowledgement is due to Lim Yen Heng for his technical assistance. This work embodies part of a thesis submitted by the author for the degree of Ph.D. in the University of Malaya.
Data on parental age, sibship size and twins
Authors: STEWART ALICE , BARBER RENATE 
Published: September 2007

SUMMARY3751 sibships, selected on the basis of a birth during 1952, were examined from the point of view of parents' ages and birth intervals, and 294 sibships with twin births were examined from the point of view of sibship size.There were more late marriages and small families in professional than in working‐class families but age differences between parents were not affected by occupational class or sibship size.Age at marriage and birth intervals were correlated with sibship size, and intervals between the last two births in a sibship tended to be longer than intervals between previous births.Women who were younger than their husbands had larger families and more twin births than women of the same age who were married to younger men. This difference was capable of producing a spurious association between father's age and the twinning rate.The recent decline in the perinatal mortality rate has affected twins more than singletons, and first births more than later births.The sex of twins only affected sibship size if both twins survived; in these cases there were fewer subsequent births if the twins were boys than if they were girls.The sibship data were collected by Public Health Departments in Northamptonshire and the West Riding (all 1952 births in stated regions); Northumberland, Salford and Coventry (selected births in 1952).
Some possible effects of birth control on the incidence of disorders and on the influence of birth order
Authors: GOODMAN LEO A. 
Published: September 2007

SUMMARYSelective limitation of family size will reduce the relative incidence R of a disorder if for different values of i there are differences in the probability pi that a child born to the ith set of parents is affected, and if the size si of the ith sibship (in the absence of affected offspring) is independent of pi. When si=s for all i, R will be reduced more when the criterion of termination is A= 1 (i.e. when the presence of one affected offspring terminates the sibship) than when the value of A is greater than one, and this reduction in R for any value of A (A< s) will increase with increasing values of s. To facilitate the measurement of R under various general conditions, and to assess the magnitude of the effect of selective limitation on R, various formulae are given herein.The relation between birth rank and the relative incidence of a disorder will be affected by the selective limitation of family size regardless of whether the relation is determined by the control group method, by the Greenwood‐Yule method, or by the Penrose (1934) modification of the Greenwood‐Yule method. With the control group method (where the affected cases are compared with a control group representative of all births) the ‘effect of being first‐born’ will be exaggerated in a positive direction when A= 1 if there is a negative correlation (for each j) between the probability pij‐ that the jth offspring of the ith set of parents is affected and the probability Qoij‐that there are no affected offspring among the first (j ‐ 1) offspring of the ith set of parents. With the Greenwood‐Yule method or the Penrose modification, the ‘effect of being first‐born’ will be exaggerated in a negative direction when A = I; even if this effect is positive when there is no selective limitation, it will appear to be negative when the Greenwood‐Yule method is used with A= 1. To facilitate the measurement of the effect of selective limitation on the ‘birth rank effect’, various formulae are given herein.
Probable linkage between a congenital cataract locus and the Duffy blood group locus
Authors: RENWICK J. H. , LAWLER SYLVIA D. 
Published: September 2007

SUMMARYThe large family of Nettleship (1909), which manifests one type of congenital cataract, has been studied in a search for linkage. Clinical details are given. By computer analysis, linkage of the relevant gene locus with the ABO, MNS, Rhesus, P, Kell or Secretor loci is rendered unlikely. However, there is a strong indication of close linkage with the Duffy locus; the final probability of linkage, after combination with an a priori probability against linkage, is assessed as 0–977. The extensive data of Mohr (1954), on a different type of cataract (Marner, 1949), are also fully analysed for linkage relationships, but no firm indication of linkage is found with the ABO, MNS, Rhesus, P, Lutheran or Secretor loci. For this type, the final probability of linkage with the Duffy locus is assessed as only 0–02 and it is believed that a different cataract locus is concerned.Both authors are grateful to Prof. L. S. Penrose for his help and encouragement. We are indebted to Dr A. E. Mourant for most of the anti‐sera used, to Dr D. Lehane and Prof. P. L. Mollison for anti‐Fyα; serum and to Dr B. Chown for anti‐Fy6. Thanks are due to Miss R. Marshall and Miss M. M. Izatt for their help in the blood grouping studies and to Mrs J. Schulze who, with the assistance of Mrs N. Ruth and Mrs D. Martin, organized the linkage calculations most efficiently, using facilities made available by Dr V. A. McKusick, largely from grant RG‐6642 of the National Institutes of Health. Both authors wish to acknowledge the financial support of the Medical Research Council. A Hamblin slit‐lamp was purchased with a grant from the special equipment fund of the University of London. Appendix III has been kindly contributed by Dr C. A. B. Smith.
A genetical and cytological study of repeated spontaneous abortion
Authors: ROWLEY P. T. , MARSHALL RUTH , ELLIS J. R. 
Published: September 2007

SUMMARY1. Thirty‐four patients with three or more spontaneous abortions were studied. Among 193 recorded pregnancies, 150 had ended in spontaneous abortion, two in stillbirth, three in neonatal death, and only twenty‐nine in surviving infants.2. Analysis of variance and sib‐sib correlation showed that a given patient tended to miscarry at about the same time in different pregnancies. Spontaneous abortion was most common between the tenth and the twelfth week; there was a lesser peak between 20 and 26 weeks. There were twenty‐five patients in the early group, six in the later group, and three not easily classified.3. The sex ratio for the live births was 0–94.4. The sibships of the patients and their husbands were not smaller and did not have significantly higher abortion rates than the general population.5. None of the patients' matings were consanguineous. One husband's parents were first cousins.6. The blood group types Ms and MNs were slightly commoner than expected among the patients. Otherwise, blood group frequencies did not show any significant peculiarities. No excess of serologically incompatible matings was found.7. Chromosome analyses in leucocytes from peripheral blood were made for twenty‐two of the patients and eight husbands. The only abnormality detected was a large F‐chromosome in one husband.The authors are indebted to Prof. L. S. Penrose, F.R.S., for encouragement and advice; to Prof. W. C. W. Nixon, F.R.C.O.G., for permission to study the patients in the Obstetric Department, University College Hospital; to Miss Barbara J. Warland, for enlisting the patients' co‐operation; to Dr E. S. Shalom, University College Hospital Medical School, for performing the protein‐bound iodine determinations, to Dr E. B. Robson for serum analysis of patient 3 and to Miss Linda Gorman, for technical assistance.One of us (P. T. R.) was a Donner Foundation–National Research Council Fellow in Academic Medicine during this investigation and gratefully acknowledges their support.
Quantitative analysis of finger ridge counts of the Parsi community in India
Authors: MAVALWALA JAMSHED 
Published: September 2007

SummaryTotal finger ridge counts of 200 Parsi males and 200 Parsi females were analysed. They do not display a significant sex difference, the mean value for total ridge counts in males being 139·805 (S.D. = 45·39) and for females the value being 135·905 (S.D. = 41·27).Mean ridge counts and their distributions are presented. They tend to conform generally to data from other sources but the males do not markedly have many more ridges.The right/left differentiation is not distinct.Among the European populations compared with the present sample, the Parsi females differ from all the others, whereas the males do not do so. Further comment must await more data.
Parent‐child correlations for body measurements of children between the ages one month and seven years
Authors: TANNER J. M. , ISRAELSOHN W. J. 
Published: September 2007

SUMMARYMeasurement of height, weight, sitting height, biacromial and bi‐iliac diameters, bicondylar diameters of humerus and femur, upper arm circumference, and four skinfolds have been taken on a pure longitudinal series of 117 children at intervals from 1 month to 7 years, on the mothers of all of them and on the fathers of 57. The father‐son, father‐daughter, mother‐son and mother‐daughter correlation coefficients have been calculated at successive ages of the children.Most of these measurements show a steep rise in parent‐offspring correlation from the order of 0–2 at 1 month to the order of 0–4 at 2 years; from 2 to 7 a very gradual rise continues. Weight is an exception, the correlation being highest at 1 month, lowest at 9 months and subsequently rising. The parent‐offspring correlation for skinfolds from 3 to 7 years is only about 0–1, which does not differ significantly from zero.The mother‐daughter correlations for supine length in this age range are significantly above the mother‐son correlations. The same may also be true for weight after age 1, though the statistical significance is not fully established. In bi‐iliac and biacromial diameters no such sex difference occurs. The father‐son coefficient is greater than the father‐daughter coefficient for supine length, though not to a significant degree. The father‐son coefficient for biacromial diameter from 4 to 7 years is significantly above the father‐daughter coefficient.The conclusion is drawn that there are sex‐controlled genes affecting physique operating even before puberty. As there are usually supposed to be no mother‐daughter, mother‐son, etc., correlation differences in adulthood, the question is raised as to when and how these differences may be eliminated from 7 to 17 years. The published adult figures are also reexamined, with the conclusion that the supposed equality of the four parent‐child coefficients is much less securely based on evidence than is generally thought.There is a statistically significant correlation between skeletal maturity as assessed from wrist X‐rays at ages 3 and 5 of sons and the height of their mothers. Thus tall mothers have advanced sons; but they do not have advanced daughters. Similarly tall fathers have somewhat advanced daughters, but not sons. The cause of these correlations is not yet clear; in the adult there is no positive correlation between height and previous advancement in maturity.
Two cases with a C‐group ring autosome
Authors: ATKINS L. , PANT SHYAM S. , HAZARD G. W. , OUELLETTE EILEEN M. 
Published: September 2007

SummaryTwo boys with a C‐group ring autosome, one 81/2 and the other 21/2 years old, are described. The older boy, who had microcephaly, muscular hypotonia and poor co‐ordination as well as mental and physical retardation, had an additional chromosomal anomaly in the form of a presumed translocation involving a B‐group chromosome and a fragment of the C‐group autosome from which the ring was derived. The younger boy showed only retardation of mental and physical development.This investigation was supported by U.S. Public Health Service Research Grant no. NB‐04662 from the National Institute of Neurological Diseases and Blindness. We are indebted to Dr Lyn Konugres of the Blood Grouping Laboratory, Boston, for the erythrocyte antigen, haptoglobin and transferrin studies. The technical assistance of the Misses Ida Leone, Mary Hauck. Susan Fletcher, Charlotte King, and Mrs Bettina Hirsch is acknowledged.
The effect of partial exclusion of certain matings and restriction of their average family size on the genetic composition of a population
Authors: BARKER J. S. F. 
Published: September 2007

SummaryFor a genetic disease due to homozygosity for a recessive gene, defective individuals would be eliminated from the population by exclusion of marriage between heterozygotes, or by ensuring that the reproductive value of such marriages was zero.With partial exclusion of heterozygote marriage, the frequencies of the deleterious gene and of heterozygotes will increase to a new higher equilibrium value. The frequency of defective individuals will be reduced to a minimum in the first generation, but the frequencies of heterozygote marriages and of defective individuals will then increase until at the new gene‐frequency equilibrium they have the same values as in the initial population.Where there is partial exclusion of heterozygote marriage, and a reduced reproductive value of such marriages as do occur, the gene frequency may either increase or decrease, but, for any decrease in the reproductive value, the frequencies of heterozygote marriage, and of defective individuals, will decrease.The optimum eugenic proposal, then, would entail minimization of the family size in heterozygote marriages.I am grateful to Dr B. L. Sheldon and Mr J. W. James for helpful comments.
Blood‐group gene localization through a study of mongolism
Authors: EVANS D. A. PRICE , DONOHOE W. T. A. , BANNERMAN R. M. , MOHN J. F. , LAMBERT R. M. 
Published: September 2007

SummaryEighty‐two mongol‐sib pairs and their parents at Liverpool and eighty‐two mongol‐sib pairs at Buffalo, New York, have been investigated. Their blood was examined for A, A, BO, Lewis, MNSs, Rh, P., Duffy and Kell groups in all, and for Lutheran, Kidd, Vw, Mia and DP in addition in the Buffalo series. Their salivas were tested for ABH secretor status. Results have been added to the previous data of Lang‐Brown et al. (1952/63) and show no significant association between blood‐group phenotype and mongolism, except in the cme of Kell, where a significant excess of Kell‐positive mongols is found. The possibility that the Kell locus may therefore be on chromosome 21 is discussed.No significant difference between mongols and their normal sibs is found in urinary fucose excretion.