Orellana C, Bernabeu Jordi, Monfort Sandra, Rosello Monica, Oltra Juan Silvestre, Ferrer Irene, Quiroga Ramiro, Martinez-Garay Isabel, Martinez Francisco
Hospital Universitario La Fe, Unidad de Genetica, Avenida de Campanar 21, Valencia, 46009, Spain.
BMJ Case Rep. 2009;2009. doi: 10.1136/bcr.08.2008.0665. Epub 2009 Jan 23.
Only 12 patients with a duplication of the Williams-Beuren critical region (WBCR) have been reported to date, with variable developmental, psychomotor and language delay, in the absence of marked dysmorphic features. In this paper we present a new WBCR microduplication case, which supports the wide variability displayed by this duplication in the phenotype. The WBCR microduplication may be associated with autistic spectrum disorder, but most reported cases do not show this behavioral disorder, or may even show a hypersociable personality, as with our patient. From the present case and a review of the 12 previously described,1(-)6 we conclude that the phenotype associated with duplication of WBCR can affect the same domains as WBCR deletion, but that they cluster near the polar ends of social relationship (autism-like v hypersociability), language (expressive language impairment v "cocktail party" speech), visuospatial (severe v normal), mental retardation (severe v mild) and dysmorphic (severe v mild) features.
迄今为止，仅报道了12例威廉姆斯-博伦关键区域（WBCR）重复的患者，他们存在发育、精神运动和语言发育迟缓等情况，且无明显的畸形特征。在本文中，我们报告了1例新的WBCR微重复病例，该病例支持了这种重复在表型上表现出的广泛变异性。WBCR微重复可能与自闭症谱系障碍有关，但大多数报道的病例并未表现出这种行为障碍，甚至可能表现出像我们的患者那样的过度社交型人格。根据本病例以及对之前描述的12例病例的回顾，我们得出结论，与WBCR重复相关的表型可影响与WBCR缺失相同的领域，但它们集中在社会关系（自闭症样与过度社交）、语言（表达性语言障碍与“鸡尾酒会”式言语）、视觉空间（严重与正常）、智力迟钝（严重与轻度）和畸形（严重与轻度）特征的两极附近。
