Zespół delecji 22q13 w praktyce klinicznej i cytogenetycznej: opis nowego przypadku (zespół Phelan i McDermid)

We report a case of 6-years-old girl with delayed psychomotor development, generalized hypotonia and dysmorphic features. We identified deletion of the terminal region of chromosome 22 by routine chromosome analysis. FISH studies performed with the use of N85A3 probe confirm the deletion of chromosome 22 at band q13.3. Deletion 22q13 syndrome represents a clinically recognizable entity.