Gulhan Ercan-Sencicek A, Davis Wright Nicole R, Frost Stephen J, Fulbright Robert K, Felsenfeld Susan, Hart Lesley, Landi Nicole, Einar Mencl W, Sanders Stephan J, Pugh Kenneth R, State Matthew W, Grigorenko Elena L
Program on Neurogenetics, Yale University School of Medicine, USA.
Brain Dev. 2012 Sep;34(8):700-3. doi: 10.1016/j.braindev.2011.11.003. Epub 2011 Dec 16.
Potocki-Lupski syndrome (PTLS; OMIM 610883) is a genomic syndrome that arises as a result of a duplication of 17p11.2. Although numerous cases of individuals with PTLS have been presented in the literature, its behavioral characterization is still ambiguous. We present a male child with a de novo dup(17)(p11.2p11.2) and he does not possess any autistic features, but is characterized by severe speech and language impairment. In the context of the analyses of this patient and other cases of PTLS, we argue that the central feature of the syndrome appears to be related to diminished speech and language capacity, rather than the specific social deficits central to autism.
波托基-卢普斯基综合征（PTLS；OMIM 610883）是一种由于17p11.2重复而产生的基因组综合征。尽管文献中已报道了许多PTLS患者的病例，但其行为特征仍不明确。我们报告了一名患有新发dup(17)(p11.2p11.2)的男童，他没有任何自闭症特征，但表现为严重的言语和语言障碍。结合对该患者及其他PTLS病例的分析，我们认为该综合征的核心特征似乎与言语和语言能力下降有关，而非自闭症所特有的社交缺陷。
