Rocha C F, Paiva C L A
Programa de Pós-Graduação em Neurologia, Hospital Universitário Gafrée e Guinle, Rio de Janeiro, RJ, Brasil.
Programa de Pós-Graduação em Neurologia, Hospital Universitário Gafrée e Guinle, Rio de Janeiro, RJ, Brasil
Genet Mol Res. 2014 Mar 31;13(1):2290-8. doi: 10.4238/2014.March.31.9.
Prader-Willi syndrome (PWS) is caused by the lack of expression of genes located on paternal chromosome 15q11-q13. This lack of gene expression may be due to a deletion in this chromosomal segment, to maternal uniparental disomy of chromosome 15, or to a defect in the imprinting center on 15q11-q13. PWS is characterized by hypotonia during the neonatal stage and in childhood, accompanied by a delay in neuropsychomotor development. Overeating, obesity, and mental deficiency arise later on. The syndrome has a clinical overlap with other diseases, which makes it difficult to accurately diagnose. The purpose of this article is to review the Prader-Willi-like phenotype in the scientific literature from 2000 to 2013, i.e., to review the cases of PWS caused by chromosomal abnormalities different from those found on chromosome 15. A search was carried out using the "National Center for Biotechnology Information" (www.pubmed.com) and "Scientific Electronic Library Online (www.scielo.br) databases and combinations of key words such as "Prader-Willi-like phenotype" and "Prader-Willi syndrome phenotype". Editorials, letters, reviews, and guidelines were excluded. Articles chosen contained descriptions of patients diagnosed with the PWS phenotype but who were negative for alterations on 15q11-q13. Our search found 643 articles about PWS, but only 14 of these matched with the Prader-Willi-like phenotype and with the selected years of publication (2000-2013). If two or more articles reported the same chromosomal alterations for Prader-Willi-like phenotype, the most recent was chosen. Twelve articles of 14 were case reports and 2 reported series of cases.
普拉德-威利综合征（PWS）是由位于父本15号染色体q11-q13区域的基因缺乏表达所致。这种基因表达缺失可能是由于该染色体片段的缺失、15号染色体的母源性单亲二体性，或者是15q11-q13印记中心的缺陷。PWS的特征是新生儿期和儿童期出现肌张力减退，并伴有神经心理运动发育迟缓。后期会出现暴饮暴食、肥胖和智力缺陷。该综合征与其他疾病存在临床重叠，这使得准确诊断变得困难。本文的目的是回顾2000年至2013年科学文献中普拉德-威利样表型，即回顾由不同于15号染色体上发现的染色体异常引起的PWS病例。使用“国家生物技术信息中心”（www.pubmed.com）和“科学电子图书馆在线”（www.scielo.br）数据库进行了检索，并使用了“普拉德-威利样表型”和“普拉德-威利综合征表型”等关键词组合。排除了社论、信件、综述和指南。所选文章包含对被诊断为PWS表型但15q11-q13区域改变为阴性的患者的描述。我们的检索发现了643篇关于PWS的文章，但其中只有14篇与普拉德-威利样表型以及所选的发表年份（2000-2013年）相匹配。如果两篇或更多文章报道了普拉德-威利样表型相同的染色体改变，则选择最新的一篇。14篇文章中有12篇是病例报告，2篇报告了系列病例。
