Williams syndrome as a model of genetically determined right-hemisphere dominance.

Studies were carried out on the dermatoglyphics (skin ridge marks) on the hands of children with Williams syndrome; this is an inherited disease with cardiovascular pathology and a characteristic facial phenotype ("elf" facies), along with specific mental and cognitive disturbances. The results suggest a characteristic dermatoglyphic type with the presence of complex whorls on the fingers and a clear predominance of marks of greater complexity on the left hand; this is a very rare trait in normal people and in those with other inherited nervous system disorders. The features of the dermatoglyphic pattern serve as a characteristic marker of a genetically determined state of the human central nervous system, and suggests directions for neurophysiological studies of children with Williams syndrome as a unique model for analysis of higher nervous function in humans.

[A cytogenetic study of the functions of the variable regions in human C heterochromatin. I. The effect of C heterochromatin on gene expression]. / Tsitogeneticheskoe issledovanie funktsii variabel'nykh raionov C-geterokhromatina u cheloveka. I. Vliianie C-geterokhromatina na ékspressiiu genov.

In our previous studies we have demonstrated that the degree of the growth retardation shows a positive correlation with the reduction of C heterochromatin in chromosomes 1, 9, and 16 in patients with embryopathies of unknown etiology and in children with trisomy 21. The investigation of C heterochromatin in these chromosomes in patients with obligate growth retardation and gene syndromes with a postulated Mendelian inheritance (Russell-Silver, Dubowitz etc.) has revealed a reduced C heterochromatin amount. No large C segments were seen in all of the 32 patients. Only 2 large C segments were found in 42 parents that were never inherited. The lowest amount of C heterochromatin was found in the most shortish fathers and mothers. The short stature of healthy parents in patients with the above mentioned syndromes is usually regarded as resulting from an incomplete mutant gene expression. The present results, when taken in conjunction with those of our previous study, enable us to suggest another interpretation: (i) the growth retardation in children with gene syndromes and low height of parents may be due to the reduction of C heterochromatin in chromosomes 1, 9, and 16, i.e. the mutant genes are not the only reason of the growth retardation; (ii) the obligatory growth retardation in the above syndromes can be explained by the fact that the expression of corresponding genes is possible only in genomes with a low C heterochromatin amount; (iii) the C heterochromatin in chromosomes 1, 9, and 16 influences on the number of mutant genes expression in man.(ABSTRACT TRUNCATED AT 250 WORDS)

[A cytogenetic study of the functions of the variable regions in human C heterochromatin. III. The relationship between the amount of C heterochromatin and the occurrence of the fetal alcohol syndrome]. / Tsitogeneticheskoe issledovanie funktsii variabel'nykh raionov C-geterokhromatina u cheloveka. III. Sviaz' mezhdu kolichestvom C-geterokhromatina i vozniknoveniem sindroma alkogol'nogo ploda.

It has been shown elsewhere that in children with growth retardation and gene syndromes (Russell-Silver, Dubowitz etc.), and in healthy children with inherited short stature the total amount of C heterochromatin in chromosomes 1, 9, and 16 was reduced as compared to the control. A correlation between the C heterochromatin reduction and the intrauterine growth retardation was suggested. A study of C heterochromatin in patients with fetal alcohol syndrome has shown that the chromosome sets of all the 11 children examined are identical to those of the above-mentioned patients. This fact may indicate that a small amount of C heterochromatin may play the leading role in realization of the alcohol effect, since this C heterochromatin deficiency makes the early embryogenesis open to injury to external effects. A possible functional role of C heterochromatin in disturbances of the developmental homeostasis are discussed. These disturbances concern the growth retardation and the lack of resistance to the effect of external and internal factors.

[A cytogenetic study of the functions of the variable regions in human C heterochromatin. II. C heterochromatin in families with hereditary short stature]. / Tsitogeneticheskoe issledovanie funktsii variabel'nykh raionov C-geterokhromatina u cheloveka. II. C-geterokhromatin v sem'iakh s nasledstvennoi nizkoroslost'iu.

The C heterochromatin in chromosomes 1, 9, 16, and Y was studied for 12 families of patients with inherited short stature. A comparison of the results of cytogenetic and genealogical analysis has revealed a correlation between the growth retardation in children and the short stature in parents, and the accumulation of the small C segment in chromosomes 1, 9, and 16 in their karyotypes. These data are entirely consistent with our results obtained for the families having children with gene syndromes (Russell-Silver, Dubowitz etc.) and obligate growth retardation. Obviously, there is a type of narrow height in man associated with the presence of a small amount of C heterochromatin. This appears to be an additional proof of a great importance of C heterochromatin in embryonal and postnatal development. Differential diagnostics of such a type of short stature is important for children endocrinology, since the hormonal growth-stimulated therapy does not have a desirable effect on these patients.

[Detection of chromosomal abnormalities using cordocentesis]. / Vyiavlenie khromosomnoi patologii u plodov pri ispol'zovanii kordotsenteza.

Four cases of cytogenetic prenatal diagnosis of fetuses with chromosomal aberrations are presented: (1) the Patau syndrome; (2) and (4) the Down syndrome; (3) the Klinefelter syndrome. Cordocentesis has been shown to be expedient for rapid and accurate determination of fetus karyotype. Indicative for cytogenetic examination were ultrasonic data, maternal age, the values of AFP, HGG and nonconjugated estreol in maternal serum. Comparison of ultrasonic examination of fetuses with the data on abortus autotopsia was undertaken. The results demonstrate importance of ultrasonic, cytogenetic, biochemical and morphological research in prenatal malformation diagnosis.

[Human adaptive phenotypes in physiology and medicine]. / Adaptivnye fenotipy cheloveka v fiziologii i meditsine.

The study of pathological and physiological features associated with genetic syndromes has gained increasing momentum over the past two decades. In this paper, the definition of adaptive phenotypes is presented and the complexities and obstacles to progress in this field are summarized. This is a problem of general biology and is related to genetic specificity of every organism. The concept of individual norm of man's responses is to a certain extent associated with the doctrine of constitutions. From the practical point of view it is suggested to use in medicine and physiology an individual-constitutional approach and the term adaptophenotype (adaptive phenotype) which means a stable complex of genetic and phenotypical characteristics. It can be determined using clinical, physiological, genealogical, and dermatoglyphic methods, methods of genetic markers, phenotypical analysis, etc. A variety of developmental and physiological characteristics can form the "adaptophenotype" is used in general application, it is used to refer to a broad range of human functioning including pathological characteristics (somatic disorders), psychopathology (mental disorders), physiological and behavior problems. Genetic approaches help reveal not only individual hereditary parameters which manifest as signs but also latent pathological and physiological characteristics that may be used for professional selection. The delineation of adaptive phenotypes is a difficult enterprise, not that should not dissuade clinicians and researchers from undertaking it.

[Generalized tic (Gilles de la Tourette's syndrome) in twins]. / Generalizovannyi tik (sindrom Zhill' de la Turetta) u bliznetsov.

Two pairs of monozygotic twins with tic hyperkinesis are described. One pair manifested a clinical picture of generalized tic (Gilles de la Tourette's disease), the other generalized and local tic. These observations may point to an involvement of hereditary factors in the genesis of generalized tic and to the similarity of the pathogenetic mechanisms of local and generalized tics.

[Effect of therapy with beta-adrenoblockers and vitamin complexes on indices of oxyproline excretion in various hereditary connective tissue diseases]. / Vliianie terapii beta-adrenoblokatorom i kompleksom vitaminov na pokazateli ékskretsii oksiprolina pri nekotorykh nasledstvennykh bolezniakh soedinitel'noi tkani.

Excretion of hydroxyproline with urine was studied in 16 children (5-14 years old) with Marphan-Like syndrome and Marphan, Ehlers-Dunlos and Larson syndromes after therapy involving propranolol and a complex of vitamins (ascorbic acid, riboflavin and pyridoxine) and recommended on the basis of echocardiographic analyses. The therapeutic course appears to cause quantitative and qualitative correction of collagen and apparently of elastin fibrilles development. Depending on initial patterns of hydroxyproline excretion and the syndrome form the correction could be complete or partial, while positive effect of the treatment was stable or provisional. The data obtained suggest that the complex treatment developed might be applied as a preoperative therapy of the patients with Marphan-like syndrome as well as with syndromes of Marphan and Ehlers-Dunlos before thoracoplastics caused by hereditary chest deformation and by impairments of cardiovascular system.

[The C heterochromatin of chromosomes 1, 9, 16 and Y in patients with Noonan's syndrome]. / Issledovanie C-geterokhromatina khromosom 1, 9, 16 i Y u patsientov s sindromom Nunen.

A significant reduction in the total amount of C heterochromatin of chromosomes 1, 9, 16, and Y was detected in six patients with Noonan's syndrome. The results obtained do not contradict the results of our previous investigations of the correlation between a small amount of C heterochromatin and growth retardation. The clinical resemblance of Noonan's and Turner's syndromes with respect to the functional role of facultative and constitutive heterochromatin in early embryogenesis is discussed.

[Genetic aspects of congenital pathology of the larynx and trachea]. / Geneticheskie aspekty vrozhdennoi patologii gortani i trakhei.

Medical-genetic examination covered 24 families of patients with congenital defects of the larynx and trachea. These developmental defects can be attributed to multiple unestablished defects (66.7%) or can be part of some congenital-hereditary syndromes (25%) such as chromosomal, genetic, teratogenic, of unknown etiology. The percentage of isolated developmental laryngeal and tracheal defects is relatively small--8.3%.

[Williams syndrome--a model of genetically determined right hemispheric dominance]. / Sindrom Vil'iamsa--model' geneticheski determinrovannogo pravopolusharnogo dominirovaniia.

Dermatoglyphic studies showed that children with the Williams syndrome had certain peculiarities of morphological as well as behavioral character. The findings suggest that the syndrome can be regarded as a genetical model of the right brain dominance.

[Genetic aspects of man's adaptation to long-term space flight]. / Geneticheskie aspekty adaptatsii cheloveka k dlitel'nomu kosmi- cheskomu poletu.

Human genetics may play an important role in medical support of prolonged space flights, which raise serious life sciences questions: what is a normal response or, more specifically, what is norm or pathology. This is a problem of general biology and is related to genetic specificity of every organism. The theoretical basis of pertinent researches is general genetics and cytogenetics with their concepts about the structure and function of the eukaryotic genome. The concept of an individual norm of man's responses is to a certain extent associated with the doctrine of constitutions. From the practical point of view it is suggested to use in space genetics an individual-constitutional approach and the term adaptophenotype (adaptive phenotype) which means a stable complex of genetic and phenotypical characteristics. It can be determined using clinical, genealogical, cytological, and molecular methods, methods of genetic markers, phenotypical analysis, etc. Genetic approaches help reveal not only individual hereditary parameters which manifest as signs but also latent pathological characteristics that may be used for cosmonaut selection. Identification of certain phenotypes of man, i. e. adaptophenotypes, that are suitable for life in space, also means identification of specific genotypes with their response norm at the level of the somatic cell genotype and at the level of a gamete. The role of space genetics is associated with the study of gene, chromosome and population levels of adaptation to long-term space missions. Until recently these levels of adaptation have been neglected. The program of studying human genetics in space proposed here covers both medical aspects and evolutionary approaches.

EEG mapping in children with different dermatoglyphic patterns.

This study is an attempt to analyze the relationships between EEG and dermatoglyphic patterns (DP) in 6-8 years girls. EEG-mapping was carried out in 80 healthy girls with different types of DP in 6 frequency band: delta, theta, alpha-1, alpha-2, alpha-3 and beta. Certain connection of the palmar and finger patterns with the EEG characteristics was revealed. The most pronounced differences were observed between subgroups with prevalence (8 and more) or absence of whorls on their hands fingertips, and between groups with presence or absence of certain pattern (whorl, loop or vestige) on thenar/interdigital 1 area (Th/1). Significant (p<0.05) increase of spectral density in alpha-2 and alpha-3 bands in children with whorls on hand fingertips were revealed in the first case. EEG of children with Th/1 pattern differed from the group without such pattern by increased spectral density in alpha-2, alpha-3 and beta bands. The new data obtained support the genetic determination of the EEG.