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Biomedical subjects

L Ia Levina

Publications and source records attributed to L Ia Levina.

16 recordsLinked to original sources
PubMed2000

[Study of CATCH 22: genetic aspects].

Introducing molecular genetic techniques into clinical practice has made it possible to detect del 22q11.2, an etiological factor for congenital cardiovascular diseases in CATCH 22. The authors' complex (clinical, syndromological, molecular genetic, and computed) approach to examining this group of syndromes has enabled patients at high risk for CATCH 22 to be identified. A list of gene candidates responsible for manifestations of CATCH 22 and data on how pathological phenotypes are developing in model objects are presented.

Abnormalities, Multiple↗
PubMed1997

[Human chromosome 2: database of cytogenetic mapping and phenotypical characteristics of structural aberrations].

A data retrieval system CHRODYS combines databases on autosomal human dysmorphism. This system is based on the reported case descriptions of patients from our practice in 1970s-1990s. The system CHRODYS differs from similar systems by strict selection of data on partial and complete autosomal trisomies and monosomies for cytogenetic parameters. This is necessary for revealing syndromes of congenital malformations of chromosomal origin. As a collection of genetic data, the system may serve as a useful reference for solving both theoretical and applied tasks in human genetics. One of the blocks of this system concerning cytogenetic mapping of pathologic phenotypes, caused by aberrations of human chromosome 2, is presented in detail.

Chromosome Aberrations↗
PubMed1996

[Genomic imprinting and its role in Prader-Willi and Angelman syndromes].

Published and our own data, included in the CHRODYS database, on the dependence of phenotypic abnormalities in mono-, di-, and trisomics at human chromosome 15 on its parental origin are reviewed. The concept is confirmed that Prader-Willi and Angelman syndromes result from the combined effect of gene or chromosome mutations impairing the expression of syndrome-specific genes and from genomic imprinting, i.e., repression of corresponding genes received from one of the parents.

Angelman Syndrome↗
PubMed1992

[Computerized analysis in the study of multiple congenital defects connected with chromosome abnormalities: phenotype-karyotypic relations and genetic markers].

Computerized comparisons of phenotypes observed in different kinds of chromosomal imbalance and presented in the form of sparse matrices of traits were made to study the specificity of the indicated phenotypes, the possibility of differential diagnosis of the clinically similar forms, the presence of genetic markers, and the correspondence of the compared phenotypes to syndrome criteria. Stable enough, though variable trait associations characteristic of definite forms of imbalance of chromosomes 4, 5 and 9 were revealed, which were especially manifest when the respective trait frequency profiles were compared. Phenotypic distinction of 9p- and 11q-segmental monosomies was demonstrated and respective "phenotypic nuclei" were isolated. It has been shown that reliability of identification increases when the case to be analyzed is compared with a large enough number of primary descriptions. Analysis of 35 cases of 4p-segmental monosomies allowed the conclusion that Wolf-Hirschhorn syndrome is associated with deletion within 4 (p14-pter) region.

Abnormalities, Multiple↗
PubMed1991

[Approach to differential diagnosis of clinically related forms of chromosomal pathology using computers].

Multiple congenital developmental abnormalities account for a considerable share in the structure of the childhood morbidity, mortality and disability. Still, the differential diagnosis of the above abnormalities presents considerable difficulties because of the diversity of the forms and genetic pleomorphism. Using the method of rarefied templates of the "case--description term" type tried previously, a study was made of the possibility of differentiating between the clinically related forms of the chromosomal pathology 9p- and 11q- on the basis of phenotypic differences. The template was made up of 40 cases of 9p- and 40 cases of 11q-, accounting for 720 traits altogether. The "phenotypic nuclei"--traits occurring at a rate of over 25% were revealed for each syndrome and compared. Two approaches to the differentiation between these syndromes were used, which may turn out instrumental for diagnosing the clinically related forms of multiple congenital developmental abnormalities of the non-chromosomal genesis. The potentialities and difficulties of the computer-aided differential diagnosis are under discussion.

Abnormalities, Multiple↗
PubMed1990

[Phenotype and "critical segments" of chromosomes during partial aneuploidy for chromosome 4 in man].

Computerized analysis of sparse matrix, based on the list of involved organs, body parts, extremities, function etc. (total item number about 600) was performed for different cytogenetically identified anomalies of human chromosome 4 (35 cases of 4p-, 32 cases of 4p+, 39 cases of 4q-, 39 cases of 4q+; both published and original data were used). For each of the four types of partial aneusomy, 4 specific enough groups of traits were revealed which had been found in 50% of respective patients, at least. Such "nuclei" of traits were highly similar to those given in comprehensive modern manuals. However, 4p- and 4q- could only be classified as strictly enough delineated chromosomal syndromes. The 4(p14-pter) region was found to be the most likely crucial segment for the Wolf-Hirschhorn syndrome.

Aneuploidy↗
PubMed1985

[A new case of trisomy 5p].

The trisomy 5p (5p13----p ter) was identified by G-banding in a proband girl, whose mother was a balanced translocation carrier 46, XX, t(5;8) (p13;p23). Based on the clinical and cytogenetic findings, previously published and our own, it is possible to define a particular phenotype associated with the dup (5p), including (5p13), or the complete short arm. Patients were of similar phenotype: mental retardation, macrocephaly, hypotonia, mongoloid eye slant, low-set ears, depressed nasal bridge, macroglossia, longer fingers, epicanthus, thick cheeks.

Abnormalities, Multiple↗
PubMed1984

[Positive therapeutic effect of diacarb in the syndrome of progressive muscle spasms, alopecia and diarrhea (Satoyoshi syndrome)].

A 13-year-old girl with Satoyoshi's syndrome is described. The disease manifested itself with generalized cramps, myoclonus, alopecia, diarrhea, growth retardation, muscular hypertrophies, bone malformations, and uterine and gonadal aplasia in the presence of normally developed breasts. Acetazolamide therapy led to a considerable alleviation of cramps and myoclonuses. The child's father displayed gynecomasty, muscular hypertrophy, patent palate, early alopecia and intensified lumbar lordosis; as a child she had had marked cramps in the leg muscles. The examination of the karyotype in the proband and father revealed heteromorphism with regard to the central region of the 22nd chromosome in both cases. Differential staining of the chromosomes failed to show the deletion of any fragment of this chromosome which made it possible to consider this karyotype peculiarity as a variant of the norm.

Acetazolamide↗
PubMedDate not supplied

[Tetrasomy of the short arm of human chromosome 18: cytogenetics and phenotypic disorders].

Two mentally retarded girls with a small metacentric nonsatellite extrachromosome were examined. Probands were found to share many clinical features: asthenic constitution, microcephalia, low-set malformed ears, high arched palate, long fingers and toes, a wide gap between first and second toes, clinodactyly of the 1st and 5th fingers, scoliosis. The extrachromosome was unequivocally interpreted as an isochromosome for the short arm of chromosome 18. Review of 12 i (18p) cases permits characterizing a syndrome of tetrasomy 18p.

Abnormalities, Multiple↗