Candelo Estephania, Feinstein Max M, Ramirez-Montaño Diana, Gomez Juan F, Pachajoa Harry
Health Sciences Faculty, Universidad Icesi, Cali, Colombia.
Health School, Case Western Reserve University School of Medicine, Cleveland, OH, United States.
Front Genet. 2018 Mar 21;9:98. doi: 10.3389/fgene.2018.00098. eCollection 2018.
Prader-Willi-like syndrome (PWLS) is believed to be caused by a variety of disruptions in genetic pathways both inside and outside of the genetic region implicated in PWS. By definition, PWLS does not demonstrate mutations in the 15q11-q13 region itself. It is a rare disorder whose clinical hallmarks include hypotonia, obesity, short extremities, and delayed development. This syndrome has been described in patients with 1p, 2p, 3p, 6q, and 9q chromosome abnormalities and in cases with maternal uniparental disomy of chromosome 14 and fragile X syndrome. In the present report, we describe a 9-year-old Colombian patient who demonstrated features of PWS and was ultimately diagnosed with PWLS after genetic analysis revealed a 14.97 Mb deletion of 6q16.1-q21. This is the first reported case of PWLS in Colombia and represents one of the largest documented 6q21 deletions.
普拉德-威利样综合征（PWLS）被认为是由普拉德-威利综合征（PWS）相关基因区域内外各种遗传途径的破坏所引起。根据定义，PWLS在15q11-q13区域本身并未表现出突变。它是一种罕见的疾病，其临床特征包括肌张力减退、肥胖、四肢短小和发育迟缓。这种综合征已在患有1p、2p、3p、6q和9q染色体异常的患者中以及在14号染色体单亲二倍体和脆性X综合征的病例中被描述。在本报告中，我们描述了一名9岁的哥伦比亚患者，该患者表现出PWS的特征，在基因分析显示6q16.1-q21区域有14.97 Mb的缺失后，最终被诊断为PWLS。这是哥伦比亚首次报道的PWLS病例，也是有记录的最大的6q21缺失之一。
