Zespoły subtelomerowych mikrodelecji w praktyce pediatrycznej: zespół delecji 22q13

Recently, subtelomeric aberrations became more frequently identified in patients with developmental delay and dysmorphic features. Some of them, as deletion 4p- syndrome (Wolf-Hirschhorn syndrome) or deletion 5p- syndrome (Cri du Chat syndrome), manifest with characteristic phenotype, and are quite well clinically recognizable. Others, as deletion 22q13, are not clinically so evident, while - in patients with specific developmental disorders - should be considered in differential diagnosis. The aim of this paper is to present deletion 22q13 syndrome, with diagnostic approach and management.