Genotypic and phenotypic variability in the ring chromosome 21 syndrome
DOI:
https://doi.org/10.15584/medrev.2015.4.7Keywords:
structural aberrations of chromosomes, ring chromosome 21Abstract
Introduction. The ring chromosome 21 belongs to a group of diseases dependent on the genetic constitution of an individual.
Aim. The aim of this paper is systematization and synthesis of the knowledge related to genotypic and phenotypic variability occurring in this syndrome.
Material and method. The author has carried out a systematic review of current literature related to etiopathogenesis and clinical picture of the ring chromosome 21 syndrome.
Conclusion. The ring chromosome 21 syndrome is characterized by genotypic and phenotypic variability. It possesses traits of both the malformed and dysplastic syndrome.
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