Ritka genomikai betegségek azonosítása array komparatív genomhibridizációs módszerrel- elsoként Magyarországon

Balázs Duga, Márta Czakó, Kinga Hadzsiev, Katalin Komlósi, Katalin Sümegi, Péter Kisfali, György Kosztolányi, Béla Melegh

Research output: Article

3 Citations (Scopus)

Abstract

Introduction: In the past decade the study of genomic disorders has received more interest. Array comparative genome hybridization is a widely spread diagnostic method in the research of genomic disorders. This method was implemented in the laboratory of the authors in 2012. Aim: This molecular cytogenetic method was first used to examine patients with complex developmental disorders in whom no genetic background was identified by traditional methods. Method: The authors complemented traditional diagnostic methods with array comparative genome hybridization, which has not been used in routine diagnostics in Hungary so far. Results: Using this novel method the authors were able to identify genomic alterations in 7 out of 18 patients with complex developmental disorders. They found de novo alterations in 6 out of 7 patients, which were most likely causative in the development of the phenotype, while in one case they detected a familial genomic alteration. This method helped the authors to determine the breakpoint of genomic variation in their patients and delineate the affected genes contributing to the phenotype. Conclusions: These results call attention to the usefulness of next generation diagnostic methods available in the laboratory of the authors.

Original languageHungarian
Pages (from-to)358-361
Number of pages4
JournalOrvosi hetilap
Volume155
Issue number9
DOIs
Publication statusPublished - márc. 1 2014

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Keywords

  • array CGH
  • complex developmental disorders
  • genomic disease

ASJC Scopus subject areas

  • Medicine(all)

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