12q14微缺失综合征1例报告并文献复习  

A case with 12q14 microdeletion syndrome and literature review

作　　者：陈健[1] 孟岩[1] 王彬[1] 张培 杨光[1] 王静[1] 邹丽萍[1] 刘蕊[1] CHEN Jian;MENG Yan;WANG Bin;ZHANG Pei;YANG Guang;WANG Jing;ZOU Liping;LIU Rui(Department of Pediatrics,The First Clinical Center,PLA General Hospital,Beijing 100853,China)

机构地区：[1]中国人民解放军总医院第一临床中心儿内科,北京100853

出　　处：《临床儿科杂志》2020年第11期872-876,共5页Journal of Clinical Pediatrics

基　　金：国家重点研究发展计划(No.2016YFC1000707)。

摘　　要：目的了解12q14微缺失综合征临床表型、基因型的相关性。方法回顾分析1例与Silver-Russell综合征表型重叠且合并性早熟的12q14微缺失综合征患儿的临床资料,并复习相关文献。结果女性患儿,9岁3月龄,身高113 cm(-3.6 SD),表现为特殊面容、智力落后、学习困难,有动脉导管未闭、先天性右肾发育不全、脊柱侧弯,双侧乳房Tanner分期III期、乳晕色素加深。染色体微阵列分析示患儿12q14.2q15区带缺失1个拷贝,长度约为5.8 Mbp。在PubMed、万方医学数据库、中国知网中检索到12 q 14微缺失综合征26例,加该例共27例患儿,临床表型主要为身材矮小、颅面畸形、小于胎龄儿、智力低下/发育迟滞、喂养困难、语言发育延迟、学习困难。23例伴身材矮小患儿存在HMGA 2基因缺失,21例伴智力低下/发育迟滞患儿有GRIP1基因缺失,6例确诊脆性骨硬化症者伴有LEMD 3基因缺失。结论12q 14微缺失综合征最常见的临床表型是身材矮小,存在LEMD 3基因缺失者易发生脆性骨硬化症。对于身材重度矮小合并性早熟或伴发多器官异常者应行染色体微阵列分析检查。Objective To report a rare case of 12 q 14 microdeletion syndrome with overlapping phenotypes of Silver-Russell syndrome(SRS)combined with early puberty,and to review the relevant literatures to find genotype-phenotype corelation.Methods By searching PubMed,Wanfang Medical Database and China HowNet,a total of 26 cases of 12 q 14 microdeletion syndrome were reported abroad.The clinical features and genetic change in these 26 cases and one patient diagnosed in our hospital were summarized.Results The girl is 9 years and 3 months old.Clinical features included short stature(height:113 cm/-3.6 SD;weight:18.4 kg/-2.1 SD;head circumference(HC):45 cm/-4.2 SD),intellectual disability,learning difficulties,patent ductus arteriosus,congenital right renal dysplasia,facial dysmorphism,scoliosis,and early puberty.Chromosome microarray analysis identified a 5.8 Mb deletion in 12 q 14.2 q 15 band.The common clinical phenotypes in 27 patients with 12 q 14 microdeletion syndrome included short stature(23 cases,85%),craniofacial malformations(22,81%),and small for gestational age infant(SGA)(21,78%),intellectual disability/developmental delay(21,78%),feeding difficulties(15,55%),delayed language development(12,44%),learning difficulties(10%),osteopoikilosis(6,22%),congenital heart disease(6,22%),Other clinical phenotypes included relative macrocephaly(5,18%),scoliosis(4,15%),and autism(4,15%).Nine of the 27 patients were diagnosed as SRS in the final diagnosis(33.3%).The HMGA 2 gene was deleted in 23 patients with short stature;the GRIP1 gene was deleted in 21 patients with intellectual disability/developmental delay,6 patients were diagnosed with osteopoikilosis with LEMD 3 gene deletion.Conclusion The most common clinical phenotype of 12 q 14 microdeletion syndrome is short stature.It is important to measure growth hormone level and pubertal signs for follow-ups with these patients to avoid consequential short statue in adulthood.Children with LEMD 3 gene deletion need to monitor bones for early detection of osteopoikilosis.Chro

关 键 词：12q14微缺失综合征 身材矮小 Silver-Russell综合征 染色体微阵列分析 

分 类 号：R725.9[医药卫生—儿科]