[The Phelan-McDermid syndrome (22q13 microdeletion) - case report].

Sub telomeric aberrations area frequent cause of child developmental delay. Because ofa non-characteristic course and great variation of patients' appearance in most of the subtelomeric microdeletion syndromes, diagnosis of dysmorphic features is difficult. Phelan-McDermid syndrome (22q 13 microdeletion syndrome) is characterized by generalized hypotonia, global psychomotor development delay, absent or delayed speech development and autistic behaviour. The paper describes a 4-year-old child with the 22q13 microdeletion diagnosed using MLPA and FISH methods.