We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Geneticl and clinical characteristics of 22q11.2 deletion syndrome.
- Authors
Kozlova, Yu.; Zabnenkova, V.; Shilova, N.; Min'zhenkova, M.; Antonenko, V.; Kotlukova, N.; Simonova, L.; Kazantseva, I.; Levchenko, E.; Bombardirova, T.; Zolotukhina, T.; Polyakov, A.
- 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 causing 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.
- Subjects
DELETION mutation; CHROMOSOMES; GENETIC polymorphisms; GENETIC mutation; NUCLEOTIDE sequence; HUMAN genes; FLUORESCENCE in situ hybridization
- Publication
Russian Journal of Genetics, 2014, Vol 50, Issue 5, p528
- ISSN
1022-7954
- Publication type
Article
- DOI
10.1134/S1022795414050081