State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Road, Changsha, Hunan 410078, China.
Gene. 2013 Dec 1;531(2):502-5. doi: 10.1016/j.gene.2013.09.006. Epub 2013 Sep 12.
Genotype-phenotype analysis of at least 25 individuals with interstitial 16p13.3 duplications defines a recognizable syndrome associated with duplication of a critical Rubinstein-Taybi region encompassing only the CREBBP gene. Nevertheless, variable or incompletely penetrant phenotype has been reported previously. We here report a case of a 5-year old boy with a recognizable phenotype of this syndrome, including intellectual disability, mild arthrogryposis, small and proximally implanted thumbs and characteristic facial features. In addition, growth delay, microcephaly and distinguishable structural brain MRI abnormalities were observed. A de novo 1.5 Mb interstitial duplication of 16p13.3 was detected by SNP-array and fluorescence in situ hybridization (FISH). Short tandem repeat polymorphism (STRP) analysis with marker D16S475 indicated that the duplication was formed before maternal meiosis II. Our findings highlight the variable clinical features and further expand the phenotypic spectrum correlated with this lately proposed syndrome.
对至少 25 名患有 16p13.3 号染色体间重复的个体进行的基因型-表型分析定义了一种可识别的综合征，该综合征与 CREBBP 基因仅包含的 Rubinstein-Taybi 关键区域的重复有关。然而，先前曾报道过可变或不完全外显的表型。我们在此报告了一例 5 岁男孩的病例，其具有该综合征的可识别表型，包括智力残疾、轻度关节挛缩、小而近端植入的拇指和特征性面部特征。此外，还观察到生长迟缓、小头畸形和可区分的结构性脑 MRI 异常。通过 SNP 微阵列和荧光原位杂交（FISH）检测到 16p13.3 号染色体的 1.5Mb 号染色体间重复。使用标记物 D16S475 的短串联重复多态性（STRP）分析表明，该重复是在母减数分裂 II 之前形成的。我们的发现强调了可变的临床特征，并进一步扩展了与该最近提出的综合征相关的表型谱。
