[Genetic and clinical characteristics of 22q11.2 deletion syndrome].

In a group of 140 patients with typical phenotype, the 22q11.2 microdeletion was detected in 43 patients (32%) using FISH and MLPA methods. There were no deletions of other chromosomal loci leading to phenotypes similar to the 22q11.2 deletion syndrome (22q11.2DS). Sequencing of the TBX1 gene did not detect any mutations, except for some common neutral polymorphisms. For the first time in the Russian Federation, the diagnostic efficiency of 22q11.2DS appeared to be 32%, as a result of the application of a combination of genetic approaches for a large group of patients with suspected 22q11.2DS.

[Generation and application of dynamic standard reference intervals for analyzing results of comparative genomic hybridization].

The present work was aimed at generating the dynamic standard reference intervals (DSRI) and their application for chromosomal-aberration (CA) analysis. The evaluation of the generated DSRI was performed using the DNA samples from four patients with already known CA. High-resolution comparative genomic hybridization analysis (HR-CGH) allowed us to not only identify all of the CAs, that were not revealed by CGH, but also to detect the breakpoints and to determine the size of chromosomal imbalance.

Unique mosaic X/Y translocation/insertion in infant 45,X male.

We report on a 45,X male with hydrocephaly, lobar holoprosencephaly and ichthyosis. In situ hybridization and molecular analysis have demonstrated the presence of a mosaic SRY-bearing derivative X chromosome that included Yp and heterochromatic Yq fragments.

[Study of CATCH 22: genetic aspects]. / Geneticheskie aspekty izucheniia CATCH 22.

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.

[Computerized analysis in the study of multiple congenital defects connected with chromosome abnormalities: phenotype-karyotypic relations and genetic markers]. / Komp'iuternyi analiz v izuchenii mnozhestvennykh vrozhdennykh porokov razvitiia, sviazannykh s narusheniiami khromosom: fenokariotipicheskie vzaimootnosheniia i geneticheskie markery.

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.

[Approach to differential diagnosis of clinically related forms of chromosomal pathology using computers]. / Podkhody k differentsial'noi diagnostike klinicheski skhodnykh form khromosomnoi patologii s pomoshch'iu EVM.

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.

[Our experience with 2220 stereotaxic operations]. / Nash opyt 2220 stereotaksicheskikh operatsii.

The article deals with the results of 2,220 stereotaxic operations carried out on 1,812 patients with various diseases of the central nervous system: 1,286 operations in parkinsonism, 439 in cerebral infantile paralysis, 150 in torsion dystonia (dystonia musculorum deformans), etc. The best results were produced in parkinsonism and dystonia musculorum deformans.

[Results of stereotaxic operations in patients with neurosurgical pathology]. / Rezul'taty stereotaksicheskikh operatsii u bol'nykh s neirokhirurgicheskoi patologiei.

The results of 2233 stereotaxic operations in 1812 patients are presented. Of them, 1286 were performed for parkinsonism, 439--for infantile cerebral paralysis, 150--for deforming muscular dystonia, 125--for epilepsy, 64--for neuro-oncological pathology, 169--for other diseases of the central nervous system. The best results were obtained in parkinsonism and deforming muscular dystonia.

[A new case of trisomy 5p]. / Novyi sluchai 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.

[Agenesis of the corpus callosum]. / Ageneziia mozolistogo tela.

Clinical follow-up of 9 patients with agenesis of the corpus callosum is analysed. It is established that the pleomorphism of the clinical manifestations in agenesis of the corpus callosum is determined by the concomitant cerebral lesions. Pneumoencephalography should be considered the method of choice in the diagnosis of agenesis of the corpus callosum because it demonstrates the changes in the ventricular system characteristic of this anomaly and the changes in the cerebrospinal fluid channels attendant to it. A decrease in the distance between the inferior sagittal sinus and the internal cerebral vein and in the distance between the pericallosum artery and the internal cerebral vein are pathognomonic angiographic signs. No pathognomonic changes in the bioelectric activity of the brain in agenesis of the corpus callosum were detected.