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Chromosomal microarray in postnatal diagnosis of congenital anomalies and neurodevelopmental disorders in Serbian patients.

Dijana PerovicTatjana DamnjanovicBiljana JekicMarija Dusanovic PjevicMilka GrkAna DjuranovicMilica RasicIvana NovakovićNela Maksimovic
Published in: Journal of clinical laboratory analysis (2022)
In our study, CMA proved to be a very useful method in the diagnosis of genetically caused congenital anomalies and neurodevelopmental disorders. DD/ID and dysmorphism stand out as important phenotypic features that significantly increase the diagnostic yield of the analysis.
Keyphrases
  • end stage renal disease
  • ejection fraction
  • newly diagnosed
  • chronic kidney disease
  • peritoneal dialysis
  • preterm infants
  • gene expression
  • congenital heart disease