ABSTRACT
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.
Subject(s)
Cytodiagnosis/methods , DiGeorge Syndrome/genetics , Adolescent , Child , Child, Preschool , Chromosome Deletion , Chromosomes, Human, Pair 22/genetics , DiGeorge Syndrome/diagnosis , DiGeorge Syndrome/pathology , Female , Humans , In Situ Hybridization, Fluorescence , Infant, Newborn , Male , Multiplex Polymerase Chain Reaction , Mutation , T-Box Domain Proteins/geneticsABSTRACT
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.
