The existence of numerous studies the association of single nucleotide polymorphisms (SNP) of folate cycle with various pathological conditions has led to testing genetic markers of folate cycle for patients in routine practice in some laboratories. At the same time, there are some differences issuing opinions and interpretation of results, in some cases, there is ambiguity in understanding what specific marker was analyzed. This review includes a description of the physiological effects of folate cycle enzymes, the influence of the most studied polymorphic replacements and the option to enter into the detection of minor alleles in the patient.

The paper contains comparative characteristics of reproductive parameters for the Karachays and Chircassians. The data are obtained in the survey of rural women of postreproductive age. Respondents are 1302 women (839 of Karachays and 463 Chirkassians). Both population present reproduction of extended character. The both ethnic groups are noted to have a decreased birth rate. Crow’s index and its components are estimated for both ethnic groups.

We present clinical and genetic characteristics of two patients with the syndrome of Phelen-McDermid due to deletions of chromosome 22q13 identified by standard karyotyping and chromosomal micromatrix analysis. It is shown that the peculiarities of the clinical manifestations correlate with the size of deletions due to number of genes of this region.

Relatively high incidence of 22q11.2 microdeletion determines the interest of a wide research community to the clinical profile of the carriers and molecular-genetic basis of the syndrome of 22q11.2 deletion (22q11.2 deletion syndrome, 22q11.2DS). Here we present the results of multiplex ligation-dependent probe amplification (MLPA) analysis performed on 28 patients with 22q11.2DS, deletion in which had been confirmed by FISH, in order to assess the deletion size. Six cases of the deletions of atypical size were chosen and enrolled for a subsequent analysis of their phenotypic features (these data are also reported here).

Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of keratinization disorders. It is characterized by abnormal skin scaling and sometimes it is associated with erythema. At least 10 genes are known to determine development of ARCI. We performed DNA analysis in patients and their parents (when DNA of probands were not available) from 40 families aiming to search for mutations in TGM1 and ALOX12B genes. We found mutations in 7 families in TGM1 gene. There are mutations in Alox12B gene in 13 families. Two mutations were frequent: p.Ala597Glu at exon 14 was found in 9 families, p.Tyr521Cys at exon 12 was detected in 6 families. At least one of these mutations was determined in 12 of 13 (92%) families with mutations in ALOX12B gene.

Triploidy in the live-births is a rare phenomen and its prevalence has not been determined yet. The clinical features of triploidy in the live-births have been studying in order to delineate a specific complex. We have found probably significant symptoms that are considered to be useful for making clinical diagnosis. Presented data can also be used to describe a specific phenotype and to calculate a numerical value of prevalence of triploidy.

An analysis of the presence of C677T mutant allele of MTHFR gene among the women with preterm labor was performed. The difference in the frequency of heterozygous C677T polymorphism in the MTHFR locus between the general groups of women with preterm labor and the controls was statistically unreliable. However, the carrier state of the homozygous mutant allele T in this locus determined increased risk of early and very early preterm labor in comparison with the control group (OR = 2.3; 95%CI 1.22-3.32). This finding indicates that this genetic marker is involved in the progression of venous thrombosis.

Febrile seizures (FS) is a benign, age-dependent, genetically determined condition in which the brain is susceptible to epileptic seizures, occurring in response to hyperthermia. The authors carried out the molecular genetic study of children with FS in age from 3 months to 3 years and control-group without FS in age from 1 to 5 years. It has been shown that individuals with FS homo- or heterozygous for high-producing alleles of IL-1В gene polymorphisms, the risk of FS is higher than in individuals homozygous for low-producing alleles. The analysis confirms the feasibility of a personalized approach to the management of children with FS.

The article presents a rare microdeletion syndrome 13q combined with duplication 10q, detected by array comparative genomic hybridization (aCGH) in a fetus with increased nuchal translucency and normal karyotyping result of chorionic villi. We also identified the father’s karyotype 46, XY, t (10; 13) (q26.1; q31.3). It is allowed us to estimate the prognosis and to offer prenatal diagnosis in following pregnancies. CGH method can be essential complement to standard cytogenetic methods and should be done in the all cases of fetuses with increased nuchal translucency.

ATR-16 syndrome is a rare genetic disorder in which affected individuals have a deletion of distal part of short arm of chromosome 16, which contains several adjacent genes. Symptoms include mental retardation, alpha thalassemia, a blood disorder characterized by reduced levels of functional hemoglobin, microcephaly and clubfoot. ATR-16 syndrome occurs as a spontaneous (de novo) event with no previous family history or if one of the parents has balanced chromosomal translocation that is inherited in an unbalanced manner. The article presents the results of a clinical and genetics examinations of a 3,5-year-old girl with ATR-16 syndrome identified during the chromosomal microarray (CMA) testing.