Selected genetic and chromosomal disorders

Author(s):  
Neil Nicoll
2005 ◽  
Vol 27 (1) ◽  
pp. 11-17 ◽  
Author(s):  
Nicte I Mejia ◽  
Joseph Jankovic

Motor and phonic tics are most frequently due to Tourette syndrome, but there are many other causes of tics. We analyzed data on 155 patients with tics and co-existent disorders (101M/54F; mean age 40.5 ± 20.2 years). Fourteen (9.0%) patients had tics associated with an insult to the basal ganglia, such as head trauma (N = 4, 2.5%), stroke (N = 2, 1.2%), encephalitis (N = 3, 1.9%) and other causes. In addition, certain drugs, toxins, and post-infectious causes were associated with tics. Rarely, peripheral injury can cause movement disorders, including tics (N = 1, 0.6%). Pervasive developmental disorders, including Asperger's syndrome (N = 13, 8.3%), mental retardation (N = 4, 2.5%), autism (N = 3, 1.9%), and Savant's syndrome (N = 1, 0.6%), also may be associated with tics, as noted in 21 of the 155 patients (13.5%). Genetic and chromosomal disorders, such as Down's syndrome 5 (3.2%), neuroacanthocytosis (N = 2, 1.2%), and Huntington's disease (N = 1, 0.6%), were associated with tics in 16 patients (10.3%). We have also examined the co-existence of tics and other movement disorders such as dystonia (N = 31, 20.0%) and essential tremor (N = 17, 10.9%). Sixteen (10.3%) patients presented psychogenic tics, and one (0.6%) psychogenic tics and dystonia; conversely, Tourette syndrome preceded the onset of psychogenic dystonia (N = 1, 0.6%), and psychogenic tremor (N = 1, 0.6%) in two patients. Finally, 12 (7.7%) patients had tics in association with non-movement related neurological disorders, such as static encephalopathy (N = 2, 1.2%) and seizures (N = 3, 1.9%). To understand the physiopathology of tics and Tourette syndrome, it is important to recognize that these may be caused or associated with other disorders.


Author(s):  
Svetlana Rechitsky ◽  
Tatiana Pakhalchuk ◽  
Maria Prokhorovich ◽  
Geraldine San Ramos ◽  
Oleg Verlinsky ◽  
...  

Preimplantation genetic testing (PGT) has become a practical tool for at risk couples to avoid affected pregnancies and have a healthy progeny free from genetic and chromosomal disorders. PGT is also an option for stem cell transplantation treatment through combining PGT with preimplantation HLA typing for couples with children affected by congenital disorders, for whom no other alternative therapies are available, such as for congenital immunodeficiency. We present here our experience of 135 PGT cycles performed for 74 couples at risk for producing offspring with 18 different congenital immunodeficiencies, resulting in birth of 54 healthy children free from inherited immunodeficiency, which is one of the world’s largest PGT series for immunodeficiency.


2012 ◽  
Vol 24 ◽  
pp. S31
Author(s):  
A. Kuliev ◽  
Z. Zlatopolsky ◽  
I. Kirillova ◽  
Y. Ilkevitch ◽  
J. Cieslak Janzen

1994 ◽  
Vol 11 (5) ◽  
pp. 236-243 ◽  
Author(s):  
Y. Verlinsky ◽  
A. Handyside ◽  
J. Grifo ◽  
S. Munné ◽  
J. Cohen ◽  
...  

2009 ◽  
Vol 18 ◽  
pp. S-6
Author(s):  
Y Verlinsky ◽  
N Strelchenko ◽  
V Kukharenko ◽  
S Rechitsky ◽  
O Verlinsky ◽  
...  

Author(s):  
V. I. Minina ◽  
Yu. A. Nelyubova ◽  
Ya. A. Savchenko ◽  
A. A. Timofeeva ◽  
Ye. A. Astafieva ◽  
...  

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.


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

Author(s):  
V. A. Andreeva

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.


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