Selected Syndromes and Chromosomal Disorders

2008 ◽  
pp. 2671-2725 ◽  
Author(s):  
WILLIAM H. MCALISTER ◽  
THOMAS E. HERMAN ◽  
KEITH A. KRONEMER
Keyword(s):  
Chromosomal Disorders

Estimation of chromosome disorders in workers at coal thermal power plant

2019 ◽  
pp. 149-154 ◽  
Author(s):  
V. I. Minina ◽  
Yu. A. Nelyubova ◽  
Ya. A. Savchenko ◽  
A. A. Timofeeva ◽  
Ye. A. Astafieva ◽  
...  
Keyword(s):  
Power Plant ◽  
Chromosomal Aberrations ◽  
Thermal Power Plant ◽  
Reference Group ◽  
Thermal Power ◽  
West Siberia ◽  
Kuznetsk Coal ◽  
Chromosomal Disorders ◽  
Occupational Environment ◽  
Industrial Enterprises

Introduction. Coal heat power stations are characterized by severe hazardous eff ect of occupational environment on workers. Objective. To analyze chromosomal disorders in workers of thermal power plant working on coal from Kuznetsk coal fi eld (West Siberia). Materials and methods. Th e authors studied level and specter of chromosomal aberrations in blood lymphocytes of 185 workers of Kemerovo thermal power plant and 218 inhabitants of the same location, not working on industrial enterprises (Kemerovo, Russia). For every individual, average number of 200 metaphase plates of high quality was analyzed. Results. Findings are that the workers of thermal power plant have levels of chromosomal aberrations signifi cantly higher than those of reference group (3,01±0,13% vs. 1,45±0,08%; р<0,00001). With that, increased frequency is seen both for chromatid aberrations and for chromosomal ones — that indicates complex exposure to chemical and radiation factors. Conclusions. Th e results obtained necessitate elaboration of measures to decrease genotoxic hazards in the occupational environment.

Routine G-banding in prenatal diagnosis of chromosomal disorders

1976 ◽  
Vol 31 (2) ◽  
pp. 231-234 ◽  
Author(s):  
S. Stengel-Rutkowski ◽  
A. Wirtz ◽  
B. Hahn ◽  
A. Hofmeister ◽  
J. D. Murken
Keyword(s):  
Prenatal Diagnosis ◽  
Chromosomal Disorders

Chromosomal instability in different species of agricultural animals (review)

2021 ◽  
pp. 19-26
Author(s):  
V. A. Andreeva
Keyword(s):  
Chromosomal Instability ◽  
Animal Species ◽  
Western Siberia ◽  
Reproductive Function ◽  
Farm Animals ◽  
Chromosomal Disorders ◽  
Important Indicator ◽  
Karyotypic Analysis ◽  
Different Types ◽  
Almost All

The purpose of the work was to analyze the frequency of chromosomal instability in different species of agricultural animals in Western Siberia on the basis of literature data. The analysis of the literature on the topic of somatic chromosomal instability in agricultural animals has been carried out. Despite the stability of the chromosome set, deviations from it are quite common. It is noteworthy that chromosomal instability is characteristic of almost all individuals in the population and serves as an important indicator for assessing the natural mutability of chromosomes. It has been found if an aberration appeared in one tissue, it is very likely to occur in others. It has been noted that somatic chromosomal instability occurs in animals with reduced reproductive function, as well as those suffering from any pathology. For example, in calves with parakeratosis the increase in the frequency of chromatid and isochromatid breaks has been found. Analysis of the frequency of aberrations in sires, which differ in the level of perinatal mortality of offspring revealed the increased percentage of offspring mortality in fathers with the large number of chromosomal disorders. Therefore, low fertilization, spontaneous abortions and stillbirths may be indications for karyotypic analysis. It has been revealed that the lability of the karyotype is inherent in all animal species, regardless of the species, sex and age, as well as the morphofunctional state. The data on some types of somatic chromosomal instability in different types of farm animals in Western Siberia has been presented. Such indicators as the frequency of polyploidy, the number of cells with fragments of chromosomes, as well as single and paired fragments of chromosomes has been given. Different types of chromosomal instability varied depending on the animal species and climate zone. The presented data can be accepted as a physiological norm and used in veterinary medicine and animal science.

scholarly journals Generation of Isogenic Controls for In Vitro Disease Modelling of X-Chromosomal Disorders

2018 ◽  
Vol 15 (2) ◽  
pp. 276-285 ◽  
Author(s):  
Lisa Hinz ◽  
Stephanie D. Hoekstra ◽  
Kyoko Watanabe ◽  
Danielle Posthuma ◽  
Vivi M. Heine
Keyword(s):  
Disease Modelling ◽  
Chromosomal Disorders

scholarly journals GENETIC ANALYSIS OF FAMILIES HAVING AUTOSOMAL RECESSIVE INTELLECTUAL DISABILITY

2019 ◽  
Vol 17 (2) ◽  
Author(s):  
Jamshed Khan ◽  
Muhammad Junaid ◽  
Shahab Uddin ◽  
Khalida Moeed ◽  
Usman Ullah ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Genetic Analysis ◽  
Single Gene ◽  
Cross Sectional Study ◽  
Molecular Diagnostic ◽  
Developmental Defect ◽  
Chromosomal Disorders ◽  
Cross Sectional ◽  
Pathogenic Variants ◽  
Development Delay

Background: Intellectual disability (ID) is a neuro-developmental defect that is manifested by development delay and learning disability. Such defects may be caused due to chromosomal disorders (trisomy 18 or Down syndrome) or single gene mutation. Its worldwide prevalence is estimated to be 1-3%. The genetic etiology of non-syndromic ID is poorly understood. To date, more than 100 loci have been reported to be associated with non-syndromic ID. The objective of this study was to identify the causative genes for three Materials & Methods: This cross-sectional study was conducted in the Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan from March 2014 to August 2015. The inclusion criteria set for the families was consanguineous relation and more than two patients per family (including cousins). All the patients were tested individually in friendly atmosphere using IQ test to scale the ID on the basis of performance. Thereafter, blood samples were taken by aseptic method and DNA was extracted for the purpose of doing genetic analysis. In genetic analysis, exome sequencing was performed to find the pathogenic variants. Subsequently. Sanger sequencing was also done to see the segregation of pathogenic variants. Results: Genetic analysis found mutation in AP4B1 in Family 1, in WDR62 in Family 2, while Family 3 was unremarkable. Conclusion: The study involved genetic analysis of three consanguineous families and found mutation in AP4B1 in Family 1, in WDR62 in Family 2, while Family 3 was unremarkable. The present research will help in devising molecular diagnostic technics for pre-marital and pre-conception testing.

scholarly journals The spectrum and prevalence of genetic pathology among children and adolescents of the northern districts of kharkiv region

2019 ◽  
Keyword(s):  
Children And Adolescents ◽  
Human Genetics ◽  
Pediatric Population ◽  
Genetic Disorders ◽  
Single Gene ◽  
Modern Human ◽  
Chromosomal Disorders ◽  
Healthcare Facilities ◽  
Single Gene Disorders ◽  
Epidemiological Characteristics

The spectrum and prevalence of genetic pathology among the population of a certain region are determined by the founder effect and microevolution factors and, therefore, are not always comparable in different countries. The study of these indicators is an important trend of modern human genetics. The purpose of the research was to study genetic and epidemiological characteristics of the pediatric population of two northern districts of the Kharkiv region, Ukraine: Bogodukhiv and Vovchansk. Total number of children aged 0–17 was 6896 in Bogodukhiv district, and 7891 in Vovchansk district on 01/01/2016. The medical records of 307 patients were analyzed in healthcare facilities of both districts and the city of Kharkiv. The subject of the study was the cases of single-gene and chromosomal diseases. The burden of genetic disorders among children and adolescents was 0.30% in both districts. The prevalence of single-gene diseases in these districts was 0.24% in Bogodukhiv district and 0.25% in Vovchansk district. There were 9 and 12 single-gene disorders with different modes of inheritance, respectively. Only two of them were common in the districts: congenital hypothyroidism and sensorineural hearing loss. The incidence of the latter is 1:985 in Bogodukhiv district and 1:1578 in Vovchansk district. Chromosomal pathology was detected in 0.06% of the patients in Bogodukhiv district and 0.05% in Vovchansk district. Down syndrome was the only nosological form of chromosomal disorders in both districts. For other five areas of Kharkiv region, the prevalence of genetic pathology ranges from 0.36% in Izyum district to 0.47% in Balakliia and Blyzniuky as have been previously reported. The incidence of single-gene disorders is 0.27% in Izyum and 0.39% in Blyzniuky, while the incidence of chromosomal disorders varies from 0.07% in Zmiiv to 0.13% in Krasnohrad. Thus, the spectrum and prevalence of single-gene and chromosomal pathology in Bogodukhiv and Vovchansk districts correspond to those in other districts of Kharkiv region and most European countries.

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