Poke G, Doody M, Prado J, Gattas M
Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Qld., Australia.
Mol Syndromol. 2013 Jan;3(6):270-3. doi: 10.1159/000345168. Epub 2012 Nov 20.
We report a child with segmental maternal uniparental isodisomy of chromosome 6, involving most of the long arm distal to 6q16, detected by SNP microarray. Clinical features include prenatal growth restriction, global developmental delay, and severe gastro-esophageal reflux disease. Maternal uniparental disomy (UPD) of chromosome 6 has previously been reported to cause intrauterine growth restriction. Paternal UPD of this chromosome is well known to cause transient neonatal diabetes mellitus. We discuss reported cases of maternal UPD of chromosome 6 and consider whether our patient's features may be due to disordered imprinting or unmasking of an autosomal recessive condition.
我们报告了一名儿童，通过单核苷酸多态性（SNP）微阵列检测发现其存在6号染色体节段性母源单亲二体，涉及6q16远端的大部分长臂。临床特征包括产前生长受限、全面发育迟缓以及严重的胃食管反流病。此前已有报道称6号染色体母源单亲二体会导致宫内生长受限。众所周知，该染色体的父源单亲二体会导致短暂性新生儿糖尿病。我们讨论了已报道的6号染色体母源单亲二体病例，并思考我们这位患者的特征是否可能是由于印记紊乱或常染色体隐性疾病的暴露所致。
