Pavone Piero, Corsello Giovanni, Marino Silvia, Ruggieri Martino, Falsaperla Raffaele
Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, A.U.O. Policlinico-Vittorio Emanuele Catania, Catania, Italy.
Department of Maternal and Child Health, University of Palermo, Palermo, Italy.
Mol Syndromol. 2019 Jan;9(5):253-258. doi: 10.1159/000493174. Epub 2018 Oct 2.
The Xp22.31 segment of the short arm of the human X chromosome is a region of high instability with frequent rearrangement. The duplication of this region has been found in healthy people as well as in individuals with varying degrees of neurological impairment. The incidence has been reported in a range of 0.4-0.44% of the patients with neurological impairment. Moreover, there is evidence that Xp22.31 duplication may cause a common phenotype including developmental delay, intellectual disability, feeding difficulty, autistic spectrum disorders, hypotonia, seizures, and talipes. We report on a patient with microcephaly and trigonocephaly, moderate intellectual disability, speech and language delay, and poor social interaction in addition to minor but atypical dysmorphic features. This report provides further insight into the pathogenicity of the Xp22.31 duplication by extending knowledge of its clinical features. This case, in association with those reported in the literature, indicates that the Xp22.31 duplication may contribute to cause pathological phenotypes with minor facial dysmorphisms, microcephaly, and intellectual disability as main features.
人类X染色体短臂上的Xp22.31区段是一个高度不稳定且频繁重排的区域。该区域的重复在健康人群以及不同程度神经功能障碍的个体中均有发现。据报道，在神经功能障碍患者中，该重复的发生率在0.4%至0.44%之间。此外，有证据表明Xp22.31重复可能导致一种常见的表型，包括发育迟缓、智力残疾、喂养困难、自闭症谱系障碍、肌张力减退、癫痫发作和足畸形。我们报告了一名患有小头畸形和三角头畸形、中度智力残疾、言语和语言发育迟缓以及社交互动不良的患者，此外还有轻微但不典型的畸形特征。本报告通过扩展对其临床特征的了解，进一步深入探讨了Xp22.31重复的致病性。该病例与文献报道的病例一起表明，Xp22.31重复可能导致以轻微面部畸形、小头畸形和智力残疾为主要特征的病理表型。
