Rocha C F, Vasques R B, Santos S R, Paiva C L A
Programa de Pós-Graduação em Neurologia, Universidade Federal do Estado do Rio de Janeiro, Rio de Janeiro, RJ, Brasil.
Escola de Medicina e Cirurgia, Universidade Federal do Estado do Rio de Janeiro, Rio de Janeiro, RJ, Brasil.
Genet Mol Res. 2016 Feb 22;15(1):gmr7942. doi: 10.4238/gmr.15017942.
The major clinical features of monosomy 1p36 deletion are developmental delay and hypotonia associated with short stature and craniofacial dysmorphisms. The objective of this study was to review the cases of 1p36 deletion that was reported between 1999 and 2014, in order to identify a possible correlation between the size of the 1p36-deleted segment and the clinical phenotype of the disease. Scientific articles published in the (National Center for Biotechnology Information; NCBI http://www.ncbi.nlm.nih.gov/pubmed) and Scientific Electronic Library Online (www.scielo.com.br) databases were searched using key word combinations, such as "1p36 deletion", "monosomy 1p36 deletion", and "1p36 deletion syndrome". Articles in English or Spanish reporting the correlation between deletion sizes and the respective clinical phenotypes were retrieved, while letters, reviews, guidelines, and studies with mouse models were excluded. Among the 746 retrieved articles, only 17 (12 case reports and 5 series of cases), comprising 29 patients (9 males and 20 females, aged 0 months (neonate) to 22 years) bearing the 1p36 deletions and whose clinical phenotypes were described, met the inclusion criteria. The genotype-phenotype correlation in monosomy 1p36 is a challenge because of the variability in the size of the deleted segment, as well as in the clinical manifestations of similar size deletions. Therefore, the severity of the clinical features was not always associated with the deletion size, possibly because of the other influences, such as stochastic factors, epigenetic events, or reduced penetration of the deleted genes.
1p36缺失综合征的主要临床特征为发育迟缓、肌张力减退，伴有身材矮小和颅面部畸形。本研究的目的是回顾1999年至2014年间报道的1p36缺失病例，以确定1p36缺失片段的大小与该疾病临床表型之间可能存在的相关性。我们使用关键词组合，如“1p36缺失”“1p36单体缺失”和“1p36缺失综合征”，在（美国国立生物技术信息中心；NCBI，http://www.ncbi.nlm.nih.gov/pubmed）和科学电子图书馆在线（www.scielo.com.br）数据库中搜索科学文章。检索出了用英文或西班牙文报道缺失大小与各自临床表型之间相关性的文章，同时排除了信函、综述、指南以及小鼠模型研究。在检索到的746篇文章中，只有17篇（12篇病例报告和5篇系列病例）符合纳入标准，这些文章包含了29例携带1p36缺失且描述了临床表型的患者（9例男性和20例女性，年龄从0个月（新生儿）到22岁）。由于缺失片段大小以及相似大小缺失的临床表现存在变异性，1p36单体缺失中的基因型 - 表型相关性是一项挑战。因此，临床特征的严重程度并不总是与缺失大小相关，这可能是由于其他影响因素，如随机因素、表观遗传事件或缺失基因的低外显率。
