bluuebunny/crossref_metadata_2025_split huggingface dataset:
Further cytogenetical observations in gonadal dysgenesis
Authors: FRACCARO M. , KAIJSER K. , LINDSTEN J. 
Published: September 2007

SummaryThe karyotype of two chromatin‐negative patients with Turner's syndrome has been studied in somatic cells continuously cultured in vitro. In both cases the cells displayed a complement of forty‐five chromosomes. The sex chromosomes were considered to be of the XO type.The somatic cell karyotype of the parents of one of the patients was also studied and found to be normal.Two other female patients with a tentative clinical diagnosis of gonadal dysgenesis and with a positive sex chromatin pattern were found to have a normal female karyotype.It is proposed to restrict the term of ‘Turner's syndrome’ to those individuals whose sex chromosome constitution is of the XO type.We are very much indebted to Prof. B. Vahlquist, director of the Paediatric Clinic of the University Hospital, Uppsala, for permission to quote in this paper a summary of the results of the clinical examination of patients K.E. and A.H.The skilful technical assistance of Miss E. B. Larsson with the cell culture and the photographic work is gratefully acknowledged.This research has been aided in part by a grant from the Swedish Cancer Society.
The Lewis and secretor characters in the Fulani and Habe
Authors: LAWLER SYLVIA D. , MARSHALL RUTH , ROBERTS D. F. 
Published: September 2007

SummaryThe results presented are compatible with the hypothesis that Lewis (Le, le) and secretor (Se, se) are two independent loci which interact in the phenotype (Ceppellini, 1955a, b). The special feature of the Fulani and Habe is that the phenotype frequencies of non‐secretor and Le – are different from those which have been observed in other populations, and yet the independence of Lewis and secretor has again been demonstrated. Family studies in the Habe appear to be in good agreement with the hypothesis that Le – is recessive.The field work was supported by grants to one of us (D. F. R.) from the Colonial Development and Welfare Fund, and from the Nuffield Foundation. For gifts of antisera we are indebted to Dr I. Dunsford and Dr A. E. Mourant. We are grateful to Dr J. P. Garlick for much useful information, and to Mrs K. Lele and Miss L. Gorman for technical assistance.
On a method of estimating frequencies using the negative binomial distribution
Authors: EDWARDS A. W. F. 
Published: September 2007

SummaryIn the estimation of small frequencies by counting until a certain number of affected individuals has been counted, it is shown that the most satisfactory method is to estimate the reciprocal of the frequency. In all circumstances the total number of individuals counted divided by the total number of affected individuals counted is a sufficient estimate which is approximately normally distributed when the total number of affected individuals counted exceeds one hundred.
The rate of spontaneous sex‐linked mutations and the doubling dose in man
Authors: FROTA‐PESSOA O. , SALDANHA P. H. 
Published: September 2007

SummaryA method is presented by which the spontaneous rate of mutations for recessive sex‐linked detrimentals in man may be estimated from the recorded excess of male over female deaths during uterine life. By applying this method to data collected by Stevenson (1959) an estimate of 0–0068 is reached for the frequency of mutations to sex‐linked detrimentals which act between the third week after conception and birth. The elimination caused by 1 rad of irradiation is estimated as being 0–000052 on the basis of data by Lejeune & Turpin (1957) and Schull & Neel (1958). From these estimates it is calculated that (a) 192 rad would be needed to double the natural elimination in the generation following irradiation, (b) 68 rad is an overestimate or upper limit for the doubling dose, and (c) assuming 0–5 as the average selective disadvantage for sex‐linked recessive detrimentals the doubling dose is 34 rad. A number of causes of error are discussed.
Serum gamma globulin groups in Japanese
Authors: BOYER SAMUEL H. , ISEKI SHOEI , MAYEDA AKIRA 
Published: September 2007

SummarySerum gamma globulin (Gm) groups were determined for 262 Japanese. The resulting allele frequency estimate for Gma was 0–885 and for Gmb 0–115. Some reservation is necessary in accepting these estimates at face value because of failure to observe any Gm(a ‐ b +) individual.There was no significant difference in the Gma and Gmb frequencies between normal Japanese subjects and Japanese with rheumatoid arthritis.An attempt was made to detect new Gm factors in the American population by the use of sera from Japanese rheumatoid arthritis. The attempt was based on the assumptions that effective typing sera from rheumatoid arthritics must lack the Gm factor sought, that such typing sera must be very rare in populations where the Gm factor in question is common, and that ethnic differences in Gm allele frequencies extend to undetected alleles. The attempt failed; however, the method of approach may be of value to future investigators.We wish to offer our thanks for the provision of sera from American‐born Japanese children to Dr Stanley Wright, University of California at Los Angeles, School of Medicine.This investigation was supported in part by Grant no. B2053 from the National Heart Institute, the National Institutes of Health, Bethesda, Maryland.
Chromosomal mosaicism in a case of Klinefelter's syndrome associated with thalassaemia
Authors: CRAWFURD M. D'A. 
Published: September 2007

SummaryAn unusual chromosomal constitution, XXxY/XXY, with both mosaicism and a probable partial deletion of an ‐X‐chromosome is reported in a case of Klinefelter's syndrome associated with severe thalassaemia. Evidence is submitted for regarding the association as coincidental.The literature regarding chromosomal constitution in Klinefelter's syndrome is reviewed and the possible mechanisms by which the constitution might have arisen in this patient are discussed.This work was carried out whilst holding a grant from the British Empire Cancer Campaign.I am grateful to Dr E. R. Huehns for some of the haematological investigations and for helpful discussion and to Mrs Joy Delhanty for assistance with the skin culture.I would also like to thank Prof. L. S. Penrose and Dr T. A. J. Prankerd for reading the manuscript and the latter for permission to study this case.
Haptoglobin frequencies in Jewish communities*
Authors: GOLDSCHMIDT E. , BAYANI‐SIOSON P. , SUTTON H. E. , FRIED K. , SANDOR A. , BLOCH N. 
Published: September 2007

SummaryHaptoglobin and transferrin types have been determined by starch gel electrophoresis on blood from 929 subjects belonging to various Jewish communities.The frequency of the Hp1 gene in 499 Ashkenazic Jews is 0.29 and does not differ significantly from the value of 0–26 found in 345 Jews of Oriental origin. The Hp1 frequency of Ashkenazic Jews is significantly lower than that reported for the autochthonous populations of Central and Western Europe. Two small samples collected among Sephardic Jews and among the offspring of intercommunity marriages exhibit somewhat higher frequencies of the Hp1 gene.The modified 2‐1 phenotype was found in a single subject from Baghdad. There were three cases of ahaptoglobinaemia among Ashkenazic Jews and three among the Oriental groups. No ahaptoglobinaemia was discovered in a family sample of ninety‐two Jews from Kurdistan among whom thalassaemia minor was common and the majority of whom were affeeted with G‐6‐P‐D deficiency.All transferrins were of type C.
Differential inhibition of the serum cholinesterase phenotypes by solanine and solanidine
Authors: HARRIS H. , WHITTAKER MARY 
Published: September 2007

SummarySolanine and solanidine inhibit differentially the serum cholinesterase of individuals of the ‘usual’, ‘intermediate’, and ‘atypical’ phenotypes. The effect is similar to that obtained with dilute aqueous extracts of potato.
Secretors of ABH antigen in a central Swedish population
Authors: NERELL GUNNAR 
Published: September 2007

SUMMARYAn investigation has been carried out on the frequency of secretors and non‐secretors respectively in a central Swedish population. Out of 2093 individuals tested, 1631 proved to be secretors and 462 non‐secretors, corresponding to a frequency of the recessive se‐gene of 0.4698. The theoretical elimination frequency in paternity cases is shown to be 0.0286. Comparisons have been made with previously published population frequencies, by which a statistically significant difference was demonstrated between the population under investigation and a Danish population.The author expresses his thanks to med. and fil. kand. Lars Bjerkenstedt for collecting the samples, and med. and fil. kand. Ralph Posener for assistance in the routine serological work.
The association of satellited chromosomes with specific chromosomal regions in cultured human somatic cells
Authors: FERGUSON‐SMITH M. A. , HANDMAKER S. D. 
Published: September 2007

SUMMARYThe associations of satellited chromosomes with other chromosomes have been determined in photomicrographs of 423 human somatic cells in mitosis. It is found that the frequency with which a satellited chromosome lies in juxtaposition to a particular chromosome is not purely a function of the length of that chromosome (as might be expected if the assumption were true that satellited chromosomes are distributed at random throughout the cell.) The non‐random distribution of satellited chromosomes uncovered by the study is attributed to associations at specific chromosome regions. The most common association was the well‐known and often multiple one occurring between the short arms of satellited chromosomes. A relatively high frequency of associations also occurred between the short arms of satellited chromosomes and specific non‐satellited regions of chromosomes 2, 6, 18, 19, 21 and/or 22. Much less frequent associations occurred also with specific regions of chromosomes 1, 3 and 17. A feature common to all significant associations is that they tend to occur close to sites where secondary constrictions have been demonstrated. This finding suggests that these associations may indicate the position of active nucleolus‐organizer sites. It is also postulated that chromosome associations are the result of nucleolus fusion during interphase. Evidence from organisms other than man is presented in support of the hypothesis that a tendency to chromosome association between ‘nucleolar chromosomes’ may be a general phenomenon.The possible implications of chromosome association with respect to the aetiology of human chromosomal aberrations is discussed.The writers are grateful to Dr James H. Renwick for suggestions on the presentation of the data, and to Marie E. Ferguson‐Smith for preparing the figures. This investigation was supported in part by Research Grant 7841 from the Division of General Medical Sciences, the United States Public Health Service.
Pattern of correlations in the skeleton of the growing hand
Authors: HEWITT DAVID 
Published: September 2007

SUMMARYFrom radiographs of the hand taken at the age of 2 years the lengths of nineteen bones were determined for each member of ninety‐nine sib pairs. An attempt was made to account for the variation of these lengths in terms of additive contributions from a general factor, group factors (one for each finger and one for each row) and special factors (one for each bone). The analytic model proved to be inadequate because of relatively high correlation between bones in the same neighbourhood, whether or not they belong to the same finger or row. Terminal phalanges were estimated to have a relatively low degree of integration with the hand as a whole and with stature, but a high degree of sib resemblance. A special study was made of the medial phalanx of the fifth finger, leading to the suggestion that this bone is involved in a common finger deformity because it is hyper‐responsive to general growth factors.The Oxford Child Health Survey is supported by a grant from the Medical Research Council.
Frequency of colour blindness among the tribal and non‐tribal peoples of Andhra Pradesh
Authors: DRONAMRAJU K. R. , KHAN P. MEERA 
Published: September 2007

SUMMARYA survey of colour blindness, using Ishihara plates (1960), in the tribals and non‐tribals, i.e. Hindus, Christians and Muslims, showed that 6‐5 % of the men among the non‐tribals, and 2–5 % among the tribals were colour blind. This difference is explained as due to relaxation of selection against colour blindness in the civilized communities. Out of 1155 tribals tested in the Polavaram Agency area of Andhra Pradesh, 966 were Koya Doras, 61 Konda Reddis, 51 Sugalis, 44 Koya Kammaras, 24 Pandava Nayakas, 6 Konda Rajus, and 3 Koya Musaras.We are grateful to Prof. J. B. S. Haldane, F.R.S. for his suggestions and financial help.An investigation of this nature could not have been carried out without the help of numerous people among whom we would especially like to mention the Karanam of Kondrukota, Mr K. Sarweswara Rao, Mr M. V. Krishna Rao, Mr I. Vasanta Kumar, and Mrs P. Meera Khan.
Frequency of colour blindness in Orissa
Authors: DRONAMRAJU K. R. 
Published: September 2007

SummaryTwenty­five out of 504 Oriya males and one out of seventeen Nepali males were judged to have abnormal colour vision. The percentage of protans among the Oriyas was found to be 1­98 and deutans 2­78.I have to thank Professor J. B. S. Haldane, F.R.S., for suggesting the work, and for his encouragement and advice; Messrs M. R. Shastry and P. Srihari Rao for their able assistance; the Principal and hostel authorities of Utkal Krushi Mahabidyalaya, Bhubaneswar, the Principal of the Gramsevak Training Centre, Bhubaneswar and officials of the Tribal Welfare Department, Government of Orissa, for making arrangements for me to obtain data.
A genetical study of goitre
Authors: FRASER G. R. 
Published: September 2007

SummaryA family study was performed of fifty­seven male patients who had undergone thyroidectomy for toxic or non­toxic goitre. In six or more of the thirty­one patients with non­toxic goitre there were suggestions that recessive or dominant inborn errors in iodine metabolism were present as the cause of the disease. Genetical determinants of a more complex nature undoubtedly contribute towards the pathogenesis of other cases of non­toxic goitre and of cases of primary thyrotoxicosis. It is suggested that secondary thyrotoxicosis may represent a mixture of cases in some of whom hyperactivity supervenes in a pre­existing goitre, while in others the aetiology is similar to that of primary thyrotoxicosis.A further small series of nine patients was studied where the diagnosis of carcinoma of the thyro'd was followed by survival of 3 years or more. A proportion of such cases probably represents the results of recessive or dominant inborn errors of iodine metabolism in whom lifelong thyrotrophic stimulation produces a histological picture suggestive of malignant change.This small series does not confirm the suggestion of earlier investigations that tasting status to phenylthiocarbamide is of importance in the pathogenesis of thyroid disease. The sex chromatin pattern was studied in nineteen infertile members of the male thyroidectomy series. This resulted in the discovery of one individual with non­toxic goitre who had forty­seven chromosomes and an XX Y sex chromosome complement.It would seem indispensable that further family studies should be supplemented by full laboratory investigations of propositi and their relatives, including routine thyroid function tests, auto­antibody estimations and in appropriate cases biochemical studies of thyroxine synthesis, liberation, and transport.In an Appendix family studies in areas of endemic goitre in Yugoslavia are discussed in relation to the aetiology of this condition.I should like to thank the following persons who made this study possible. Mr A. S. Till kindly allowed me access to the patients who had had thyroidectomies under his care at the United Oxford Hospitals. Dr F. Ellis helped me to trace the cases of carcinoma of the thyroid with long survival who had attended the Radiotherapy Department of the United Oxford Hospitals. Dr W. R. Trotter permitted a series of male thyrotoxic patients attending his clinic at University College Hospital to be seen. Dr O. J. Miller, Dr M. Fraccaro, Dr M. Glen­Bott and Mrs A. Webster helped in the sex chromatin and chromosome studies. Miss S. Barnett, Miss K. Major and Miss R. Mason made many of the family visits.Finally, I should like to thank Professor Gusic, Professor Kesic, Dr Ferber, Dr Grunwald, Dr Maver and Dr Sestak of the Faculty of Medicine in the University of Zagreb who arranged for the family visits in Yugoslavia.
Presumptive iso­chromosomes for the long arm of X in man. Analysis of five families
Authors: LINDSTEN J. , FRACCARO M. , IKKOS D. , KAIJSER K. , KLINGER H. P. , LUFT R. 
Published: September 2007

SummaryThe cytological study of five female individuals is indicative of the existence in man of iso‐chromosomes for the long arm of the X chromosome. Phenotypically these subjects are characterized by primary amenorrhoea, short stature, elevated excretion of gonadotropins and low excretion of oestrogens in urine.Laparotomy revealed in two of them gonadal streaks. Analysis of dermatoglyphics showed patterns similar to those found in XO individuals.The five subjects are sex chromatin positive in buccal mucosa smears and in cultured cells, and drumsticks are found consistently in their neutrophils. The karyotypes of the five patients are consistent in their appearance in all the cells with forty­six chromosomes from different tissues bone marrow, skin and blood there are fifteen chromosomes in the 6­12­X group instead of sixteen, and an extra metacentric chromosome similar to those of pair no· 3. These cells are interpreted as having one normal X chromosome and a presumptive iso­chromosome for the long arm of X. In one or more of the tissues cultured from patients A.S., L.A. and B.J. there is a proportion of cells with forty‐five chromosomes and with an XO constitution.The origin of the iso‐chromosomes is thought to be meiotic and paternal. This hypothesis is discussed on the basis of an apparent deficiency of females in the sibships of the patients and of the genetical information provided by the study of the sex‐linked Xg blood group system in the family of B.J. This family, in which red‐green colour blindness is segregating, provides also evidence that the Xg and the red‐green colour blindness loci are located on the short arm of the X chromosome.Personal, family and laboratory data are provided in Appendices, together with the cytological data and chromosome measurements.The writers wish to express their gratitude to all those who cooperated in this investigation. In particular they would like to thank Sarah B. Holt, I. Kugelberg, L. S. Penrose, R. R. Race, A. Remeck, Ruth Sanger, M. Svenmar, Anita Tillberg. They would specially mention the kindness of C. E. Ford who critically reviewed the manuscript.This research has been aided in part by grants from ‘Solstickans fund för forskning rörande kroniska och invalidiserande sjukdomar hos barn’ and by a personal grant to R. Luft from the Knut and Alice Wallenberg Foundation.
Deficiency of erythrocyte glucose‐6‐phosphate dehydrogenase in Greek populations
Authors: ALLISON A. C. , ASKONAS B. A. , BARNICOT N. A. , BLUMBERG B. S. , KRIMBAS C. 
Published: September 2007

SUMMARY

Erythrocyte glucose‐6‐phosphate dehydrogenase has been measured on samples from 665 males from different parts of Greece.
High proportions of enzyme‐deficient subjects were found in some regions, notably the Chalkidhiki peninsula and the island of Rhodes.
The incidence of enzyme deficiency in different populations shows a positive correlation with the incidence of abnormal haemoglobin genes, as would be expected if all the genes are favoured by malarial selection.

We are indebted to various Greek colleagues who facilitated the collection of blood or providec helpful discussion, including Prof. G. A. Deliyannis and Dr A. Ballas, Salonika, Dr Limberis and Prof. K. B. Choremis, Athens, and Dr G. Kypriotis, Rhodes. The work was supported by the Section on Geographic Medicine and Genetics, National Institute of Arthritis and Metabolic Diseases, Bethesda, Maryland.
A family study of Hirschsprung's disease
Authors: BODIAN MARTIN , CARTER O. O. 
Published: September 2007

SUMMARYFamily data are reported on 207 index cases, in 203 families, attending The Hospital for Sick Children from July 1948 to December 1959 with Hirschsprung's disease. Of these 82% were of the ‘short‐segment’ variety, 17 % of the ‘long‐segment’ variety and 2 (1 %) were of the very long‐segment variety extending to the duodenojejunal junction.The incidence of all varieties in the general population is estimated to be between 1 in 2000 and 1 in 10,000 total births.The overall sex ratio is 3–6 but this decreases with the length of aganglionic segment, being 1–5 for long‐segment cases and 4–7 for short‐segment cases.There is no effect of maternal age and birth order.The only associated malformation is Down's syndrome, which was present in 3 of the 207 index patients.Parental consanguinity was found only once in the series.A male monozygotic twin pair were both index patients. Three surviving dizygotic co‐twins of index patients were unaffected.Thirteen sib pairs were concordant for the length of aganglionic segment.The proportion affected of sibs of short‐segment cases was 9 in 173 brothers, and 1 in 145 sisters, and of long‐segment index cases 5 in 35 brothers and 3 in 28 sisters.Two children of index patients were both unaffected. One uncle, two nephews, and five first cousins were affected. The two nephews were exceptional in that they were long‐segment cases while the index patient was a short‐segment case.It is suggested on the analogy of the experimental work of Yntema & Hammond with the chick embryos, that the development of Hirschsprung's disease is due to a partial interference with the migration of neuroblasts from the lower cranial‐upper cervical neural crest to the gut wall.No simple hypothesis may yet be put forward as to the nature of the genetic factors predisposing to Hirschsprung's disease.We wish to thank the consultant staff of The Hospital for Sick Children for access to their patients, the staffs of the hospitals mentioned in Appendix B, for supplying information about, and sending histological material from, patients* relatives, and Dr J. A. Fraser Roberts for helpful criticism. We are greatly indebted to Miss A. R. Buck for most of the home‐visiting of the families and her help with the analysis.
Genetic aspects of angiokeratoma corporis diffusum
Authors: JOHNSTON A. W. , WARLAND B. J. , WELLER S. D. V. 
Published: September 2007

SummaryThe genetic data on two new families with angiokeratoma corporis diffusum are recorded. The first pedigree extends over five generations. Six males are known to be affected in the three most recent generations, and possibly three more in the two previous ones. The mode of inheritance is consistent with a sex‐linked gene. This is confirmed by the occurrence of colour blindness and informative Xga findings in one section of the family, suggesting that the angiokeratoma locus may lie between those for Xg and deutan.Prof. C. E. Dent kindly drew our attention to the original probands in family A and Prof. M. 1,. Rosenheim to the one in family B. We should like to thank Dr Ruth Sanger for carrying out the Xga studies and for her comments on the results, and Mr D. P. Greaves for the ophthal‐mological assessments. Dr P. C. Farrant invited us to see case IV. 38 in family A and Prof. A. G. Watkins informed us about V. 16. We are also grateful to a number of other doctors and hospitals who have supplied us with additional information.