Bıçağın İki Yüzü: Kromozom 17p11.2 Delesyon ve Duplikasyon Sendromları

Potocki-Lupski and Smith-Magenis syndromes are associated with the human 17th chromosome short arm (11.2 band). Duplication of this region is defined as Potocki-Lupski syndrome, and its deletion is defined as Smith-Magenis syndrome. Although these diseases, which are rare in childhood, have typical phenotypic features, the diagnosis is made with advanced genetic analysis. In this article, we aimed to point out especially neurological developmental delay and other neurological complications caused by these two syndromes and draw the attention of pediatric clinicians to these syndromes.