One case of Prader-Willi syndrome and high-resolution chromosomal analysis

One case of Prader-Willi syndrome and high-resolution chromosome study. F. eta1. Interstitial 15q deletion without a classic Prader-Willi phenotype. Am J Med Genet 1991, 38: 532. Anguio M.A. eta1. Deletion of chromosome 15q11.2-l9 associated with obesity and learning disorders without clinical features of Prader-Willi syndrome. Clin Genet 1989 • 36: 298. Kaplan I.C.W.R., eta1. Clinical heterogeneity associated with deletions in the long arm of Chromosome 15: Report of 3 new cases and their possible genetic significance. Am J Med Genet 1988, 28:451. Mattei M.G. eta1. Chromosome 15 anomalies and the Prader-Willi syndrome: Cytogenetic analysis. The Hum Genet 1984; 86:313. High-resolution Cytogenetic Study of a Patient with Prader-Willi Syndrome Shi Yuping, et al Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences (Beijing). We investigated a patient with Prader-Willi syndrome by using the high-resolution banding technique. His clinical findings were also examined in some detail. The patient had interstitial deletion of 15q, with breakpoints at 15q11.2 and 15q13. However, he had a normal karyotype at about 400 bands per haploid-set. During the course of this study, it was realized that a small deletion in the proximal 15q could be easily overlooked when a mitotic spread of about 400-bands or less per haploid-set was used. It is suggested that the high-resolution banding technique is of great importance in identifying microdeletions and other microaberrations of chromosomes.

The thixotropic characteristics of human blood and its clinical significance, responsible for Hui, Chen Huai Qing Zhong Li Liang indiscriminately East Xuezhen Nan Chen Zhengyu (West China Branch, Chengdu). Blood thixotropy refers to the viscosity of blood depending on shear rate and shear duration characteristics. Short-term parameter determination can comprehensively and dynamically quantitatively reflect the rheological properties of blood. Surgical research aims to create a two-step shear determination method to simplify a set of means to improve accuracy. System Tian gives the name to the 3l4 thixotropic parameters of whole blood in adults in China. Analysis of the impact of gender and age on these parameters. First, clarify the international community's misconception that blood thixotropy parameters are unrelated to sex and age, and clarify that cerebrovascular disease and pulmonary heart disease show significant changes in blood thixotropic parameters compared to healthy people. These parameters can be used as quantitative indicators to diagnose these diseases. In vitro experiments with four kinds of drugs and in vivo experiments with two kinds of drugs in patients with cerebral thrombosis showed different drug effects on thixotropic parameters, indicating good efficacy of certain drugs that can cause changes in some parameters.