title: [The Phelan-McDermid syndrome (22q13 microdeletion) - case report].
abstract: 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.
authors.affiliation: Katedra i Zaldad Genetyki, Akademia Medyczna we Wroclawiu Kierownik: prof. dr hab. M.M. Sqsiadek.
authors.forename: Ryszard
authors.initials: R
authors.lastname: Slezak
authors.forename: Izabela
authors.initials: I
authors.lastname: Laczmańska
mesh_terms: D002352:Carrier Proteins / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics; D009419:Nerve Tissue Proteins; D010641:Phenotype
chemical_list: D002352:Carrier Proteins; D009419:Nerve Tissue Proteins; C492357:SHANK3 protein, human