yoktur
yoktur
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.
yoktur
Primary Language | Turkish |
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Subjects | Health Care Administration |
Journal Section | OLGU SUNUMU |
Authors | |
Project Number | yoktur |
Publication Date | September 13, 2021 |
Published in Issue | Year 2021 Volume: 43 Issue: 5 |