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Summary The techniques of H3-thymidine autoradiography, C and G bandings were utilized for the identification of an extra C chromosome in a patient with 47,XX,+C complement. The abnormal element was found to be an additional homolog of 8 pair. The clinical findings of this patient were compared with those cases that have been reported in the literature as 8 trisomies. A few more such cases must be studied before trisomy 8 syndrome can be established.
Zusammenfassung Die Techniken der H3-Thymidin-Autoradiographie sowie der C- und G-banding-Methode wurden für die Identifizierung eines zusätzlichen C-Chromosoms bei einem Patienten mit einem Chromosomensatz von 47,XX,+C herangezogen. Das abnorme Chromosom stellt ein zusätzliches Homolog des Chromosomenpaares 8 dar. Die klinischen Befunde beim Patienten werden mit anderen Fällen, die in der Literatur beschrieben worden sind, verglichen. Bevor jedoch das Trisonomie 8-Syndrom charakterisiert werden kann, sind weitere Beobachtungen erforderlich.相似文献
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A. Schinzel 《Human genetics》1977,37(1):17-26
Summary Two cases of partial trisomy 8q are presented. Common clinical features included severe mental and physical retardation, a prominent and short forehead, widely set mongoloid eyes, broad, flat nose with short septum, short upper lip, misshapen ears, a funnel chest, hypertrichosis of the back, coxa valga, and short fingers with brachymesophalangy and clinodactyly of the little fingers. Moreover, Case 1 had a frontal meningocele and bilateral talipes equinovarus, and Case 2 had a ventricular septal defect. The chromosome aberration in the two girls arose from a maternal balanced translocation, t(8;18) (q2309;p113). Since the major clinical features of mosaic trisomy 8 are absent in the two girls and in other cases of partial trisomy, both for the distal segment of the lang arm and for the short arm of chromosome 8, it is concluded that trisomy of the proximal part of the long arm of chromosome 8 causes most of the clinical findings of trisomy 8 mosaicism syndrome. 相似文献
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Partial trisomy 8 (8q24) and the trisomy-8 syndrome 总被引:5,自引:0,他引:5
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The trisomy 8 syndrome: report of two further cases 总被引:3,自引:0,他引:3
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A simple two-variable mathematical model is proposed, able to acount for periodic variations relating to growth in Podospora anserina and fructification in Aspergillus niger. This basic model is open to generalization. 相似文献
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Each year medical schools in the United Kingdom select about 3800 entrants from about 12 000 applicants. The problem of selection is thus substantial, but the objectives, policies, and practices of different medical schools differ sharply and details of the procedures used are rarely made clear. There is no reliable or up-to-date information available for schools, careers of advisers, and prospective candidates to keep abreast of these practices and policies and of changes made to them. A code of practice for medical student selection might be helpful and would not only facilitate discussion about the appropriateness and fairness of the widely differing practices but make it easier to evaluate the procedures used. Such a code should list the academic and personal requirements for the school, state any quotas for types of entrants, and describe the selection procedures. 相似文献
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An attempt to establish a synthetic model of photosynthesis-transpiration based on stomatal behavior for maize and soybean plants grown in field 总被引:4,自引:0,他引:4
A synthetic model of photosynthesis-transpiration was established based on a comprehensive consideration of models of CO2 and H2O fluxes controlled by stomata of plant leaves.The synthetic model was developed by introducing the internal conductance to CO2 assimilation, gic, and the general equation of stomatal conductance model to H2O diffusion, gsw = g0+a1Amf(Ds)/(Cs-Γ), into models of CO2 and H2O diffusion through the plant leaves stomata. In the above expression, g0 and a1 are coefficients, Cs ambient CO2 concentration at leaf surface, Γ CO2 compensation point, and f(Ds) the general function describing the response of stomatal conductance to humidity. Using the data observed in maize (Zea mays L.) and soybean (Glycine max Merr.) plants grown in the field, the parameters in the model were identified, and the applicability of the model was examined. The verification indicated that the developed model could be used to estimate net assimilation rate, transpiration rate, and water use efficiency with a high enough level of precision. The examination also showed that when f(Ds) = hs or f(Ds) = (1+Ds/D0)−1 was employed, the estimation precision of the synthetic model was highest. In the study, the parameter gic was estimated by means of a linear function of QP because it was shown to be mostly correlated with photosynthetic photon flux, QP, among various environmental factors. 相似文献
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Journal of Genetics - 相似文献
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