[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.

An exposure to the oxidized DNA enhances both instability of genome and survival in cancer cells.

Background: Cell free DNA (cfDNA) circulates throughout the bloodstream of both healthy people and patients with various diseases and acts upon the cells. Response to cfDNA depends on concentrations and levels of the damage within cfDNA. Oxidized extracellular DNA acts as a stress signal and elicits an adaptive response.

[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.

A 3-year-old boy with ovotestes: gender reassignment and surgical management.

Objective: We report a male patient with ovotesticular disorder of sex development (OTDSD), resulting from structurally abnormal Y chromosome.

Case Report: A 3-year-old boy was admitted to the Surgical Pediatric Department for masculinizing reconstruction. He had a clitorophallus, bifid scrotum, perineal hypospadias and bilateral impalpable gonads.

Hidden X chromosomal mosaicism in a 46,XX male.

We report on a 37-year-old XX male with complex hidden X chromosomal mosaicism. The patient had fully mature male genitalia with hypoplastic testes descended in the scrotum and no sign of undervirilization. Hormonal examination demonstrated hypergonadotropic hypogonadism, semen analysis showed severe oligoasthenoteratozoospermia.