journal1 ›› 2017, Vol. 25 ›› Issue (2): 214-216.DOI: 10.11852/zgetbjzz2017-25-02-32
Received:2016-03-01
Online:2017-02-10
Published:2017-02-10
罗俊1,邹彩艳1,徐芬1,黎红平1,黄艳1,王辉林2,卢光进1
通讯作者:
王辉林,E-mailwang_huilin@126.com
作者简介:罗俊(1978-),江西人,副主任医师,医学博士,研究方向为新生儿重症监护疾病。
CLC Number:
罗俊,邹彩艳,徐芬,黎红平,黄艳,王辉林,卢光进. 3p21.31微缺失综合征1例报告并文献复习[J]. 中国儿童保健杂志, 2017, 25(2): 214-216.
Add to citation manager EndNote|Ris|BibTeX
URL: http://cjchc.xjtu.edu.cn/EN/10.11852/zgetbjzz2017-25-02-32
| [1] Hamilton MJ,Sarkar A,Dixit A,et al.Phenotypes of 8q13.2-q13.3 microdeletion:Case report and literature review of an emerging recurrent microdeletion syndrome[J].Am J Med Genet A,2016,170(3):804-808. [2] Genesio R,Fontana P,Mormile A,et al.Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome[J].Mol Cytogenet,2015,8(96):1-6. [3] Haldeman-Englert CR,Gai X,Perin JC,et al.A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness,cleft lip,CNS abnormalities,and developmental delay[J].Eur J Med Genet,2009,52(4):265-268. [4] Eto K,Sakai N,Shimada S,et al.Microdeletions of 3p21.31 characterized by developmental delay,distinctive features,elevated serum creatine kinase levels,and white matter involvement [J].Am J Med Genet A,2013,161A(12):3049-3056. [5] 王慧君,Weimin B,吴冰冰,等.染色体基因芯片分析在临床遗传病诊断中的应用和结果解读[J].中国循证儿科杂志,2014,9(3):227-235. [6] Kodera H,Osaka H,Iai M,et al.Mutations in the glutaminyl-tRNA synthetase gene cause early-onset epileptic encephalopathy[J].J Hum Genet,2015,60(2):97-101. [7] Qiu L,Zhou J.Simultaneous mutations of LAMB2 and NPHP1genes in a Chinese girl with isolated congenital nephrotic syndrome:a case report[J].BMC Pediatr,2016,16:44. [8] Radner S,Banos C,Bachay G,et al.β2 and γ3 laminins are critical cortical basement membrane components:ablation of Lamb2 and Lamc3 genes disrupts cortical lamination and produces dysplasia[J].Dev Neurobiol,2013,73(3):209-229. [9] Zhang X,Ling J,Barcia G,et al.Mutations in QARS,encoding glutaminyl-tRNA synthetase,cause progressive microcephaly,cerebral-cerebellar atrophy,and intractable seizures[J].Am J Hum Genet,2014,94(4):547-558. [10] Salvarinova R,Ye CX,Rossi A,et al.Expansion of the QARS deficiency phenotype with report of a family with isolated supratentorial brain abnormalities[J].Neurogenetics,2015,16(2):145-149. |
| [1] | . [J]. Chinese Journal of Child Health Care, 2024, 32(11): 1161-1162. |
| [2] | ZONG Xin'nan. History, achievements, problems and prospects of survey and research on physical growth and development of children in China [J]. Chinese Journal of Child Health Care, 2024, 32(11): 1163-1168. |
| [3] | LI Dongdan, WU Jie. Individualized nutritional management strategies for food allergy in children [J]. Chinese Journal of Child Health Care, 2024, 32(11): 1169-1172. |
| [4] | WANG Xi, LYU Huiling, HU Jiale, HAN Di, DING Ziyao, SHEN Hui, HU Jia. Association between the pubertal timing and high blood pressure in children and adolescents in Suzhou City [J]. Chinese Journal of Child Health Care, 2024, 32(11): 1173-1178. |
| [5] | CAI Bingyao, CAO Ying, ZHU Siying, CAO Da, JIANG Jianuo, DONG Yanhui, MA Jun. Influence of lifestyle on overweight and obesity, abnormally high blood pressure and their morbidity among college students in northern China [J]. Chinese Journal of Child Health Care, 2024, 32(11): 1179-1185. |
| [6] | DUAN Peifen, YUAN Jianhui, FENG Xiangxian. Effect of childhood obesity intervention on body shape perception and the mediating role of body shape perception in changes of obesity indicators [J]. Chinese Journal of Child Health Care, 2024, 32(11): 1186-1189. |
| [7] | HUANG Kun, LI Xiuhong, WU Jiaqi, CHEN Jin, HAN Xiaopu, LIN Rong. Association between outdoor activity time of students and scoliosis [J]. Chinese Journal of Child Health Care, 2024, 32(11): 1190-1195. |
| [8] | LIU Junting, LI Shaoli, CHEN Fangfang, ZONG Xinnan, HUANG Chunlei, ZHANG Tong, TAI Jun, GU Qinglong, On behalf of the Beijing Children and Adolescent Health Cohort Collaborative Group. Baseline characteristics analysis of the Beijing Children and Adolescents Natural Population Cohort [J]. Chinese Journal of Child Health Care, 2024, 32(11): 1212-1218. |
| [9] | ZHANG Fen, JIA Lina. Research progress on food preferences of children and adolescents [J]. Chinese Journal of Child Health Care, 2024, 32(11): 1219-1225. |
| [10] | WU Huahong, SHU Wen, YU Chengdong, ZHANG Yaqin, WU Ting, ZONG Xinnan. Meta-analysis of effect of calcium supplementation on children's height [J]. Chinese Journal of Child Health Care, 2024, 32(11): 1246-1251. |
| [11] | WU Shuxian, WU Qingqing, WANG Lei, ZHAO Xiang, LYU Qiaohong, HUANG Yu. Pathway of the effect of screen exposure on overweight and obesity among children and adolescents [J]. Chinese Journal of Child Health Care, 2024, 32(11): 1252-1255. |
| [12] | DING Yonggang, LI Libo, MA Zhen, ZARXI Quzha. Non-suicidal self-injurious behaviors and associations with help-seeking behaviors among Tibetan middle school students in agricultural and pastoral areas of Tibet [J]. Chinese Journal of Child Health Care, 2024, 32(10): 1064-1069. |
| [13] | LIANG Guiye, GONG Jian, ZHOU Yue, GONG Linlin, WANG Yanni, XUE Hongli. Sleep health status and its influencing factors among primary and secondary school students in Lanzhou City [J]. Chinese Journal of Child Health Care, 2024, 32(10): 1070-1075. |
| [14] | JIN Guihua, CUI Wenxiang. Comparison of the detection rates of new media dependence and addiction among adolescents with different family social capital in the Yanbian area [J]. Chinese Journal of Child Health Care, 2024, 32(10): 1085-1090. |
| [15] | LI Tiangeng, GUO Liang, ZENG Sai, ZHENG Gangbin. Correlation of physical activity and sedentary behavior with cognitive development of preschool children [J]. Chinese Journal of Child Health Care, 2024, 32(10): 1111-1115. |
| Viewed | ||||||
|
Full text |
|
|||||
|
Abstract |
|
|||||
