Li Lin, Huang Linhuan, Lin Shaobin, Luo Yanmin, Fang Qun
Fetal Medicine Centre, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong, China.
Am J Med Genet A. 2017 Aug;173(8):2284-2288. doi: 10.1002/ajmg.a.38284. Epub 2017 May 24.
A 200∼240 kb SH2B1-containing deletion region on 16p11.2 is associated with early-onset obesity and developmental delay. Here, we describe monozygotic twin brothers with discordant clinical presentations. Intrauterine fetal growth restriction was present in both twins. Additionally, twin A exhibited coarctation of aorta, left ventricular noncompaction, atrial septal defect, pericardial effusion, left hydronephrosis, and moderate developmental delay, whereas twin B exhibited single umbilical artery. Chromosome microarray analysis was performed on both twins and their parents. An identical 244 kb microdeletion on 16p11.2 including 9 Refseq genes, including SH2B1, was identified in the twins. The novel findings in monozygotic twins may expand the phenotypic spectrum of 16p11.2 microdeletion. Further studies are needed to strengthen the correlation between genotypes and abnormal clinical features.
16p11.2上一个包含200至240kb SH2B1的缺失区域与早发性肥胖和发育迟缓相关。在此，我们描述了一对临床表现不一致的同卵双胞胎兄弟。双胞胎均存在宫内胎儿生长受限。此外，双胞胎A表现出主动脉缩窄、左心室心肌致密化不全、房间隔缺损、心包积液、左肾积水和中度发育迟缓，而双胞胎B表现出单脐动脉。对双胞胎及其父母进行了染色体微阵列分析。在双胞胎中鉴定出16p11.2上一个相同的244kb微缺失，包括9个Refseq基因，其中包括SH2B1。同卵双胞胎中的新发现可能会扩大16p11.2微缺失的表型谱。需要进一步研究以加强基因型与异常临床特征之间的相关性。
