Article
[Genetic and clinical characteristics of 22q11.2 deletion syndrome].
Genetika - 1 May 2014
Kozlova Iu O, Zabnenkova V V, Shilova N V, Min'zhenkova M E, Antonenko V G, Kotlukova N P, Simonova L V, Kazanceva I A, Levchenko E G, Bombardirova T D, Zolotukhina T V, Poliakov A V
Abstract excerpt
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,...
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