journal1 ›› 2019, Vol. 27 ›› Issue (8): 927-928.DOI: 10.11852/zgetbjzz2018-0000
Received:2018-10-22
Online:2019-08-10
Published:2019-08-10
钟娩玲, 黄志敏
通讯作者:
黄志敏,E-mail:105334611@qq.com
作者简介:钟娩玲(1991-),女,广东人,住院规培医师,硕士研究生,主要研究方向为儿童重症医学。
CLC Number:
钟娩玲, 黄志敏. Wolf-Hirschhorn 综合征1例报道并文献复习[J]. 中国儿童保健杂志, 2019, 27(8): 927-928.
Add to citation manager EndNote|Ris|BibTeX
| [1]Bi W, Cheung SW, Breman AM, et al.4p16.3 microdeletions and microduplications detected by chromosomal microarray analysis: new insights into mechanisms and critical regions[J].Am J Med Genet A,2016,170(10):2540-2550. [2] Shannon NL, Maltby EL, Rigby AS, et al.An epidemiological study of Wolf-Hirschhorn syndrome: life expectancy and cause of mortality[J].J Med Genet,2001,38(10):674-679. [3] Xing Y, Holder JL, Liu Y, et al.Prenatal diagnosis of Wolf-Hirschhorn syndrome: from ultrasound findings, diagnostic technology to genetic counseling[J].Arch Gynecol Obstet,2018,298(2):289-295. [4] Concolino D, Rossi E, Strisciuglio P, et al.Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome[J].J Med Genet,2007,44(10):647-650. [5] 李静, 陈雪, 王兴,等.Wolf-Hirschhorn综合征一例及研究进展[J].中国优生与遗传杂志,2015,23(10):42,66,139. [6] 郭丽格,刘亚萍.Wolf-Hirschhorn综合征1例报告[J].中国儿童保健杂志,2017,25(1):107-108. [7] Zollino M, Lecce R, Fischetto R, et al.Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2[J].Am J Hum Genet,2003,72(3):590-597. [8] Ferrara P, Del Bufalo F, Nicoletti A, et al.Wolf-Hirschhorn syndrome with improvement of renal function[J].Am J Med Genet A,2010,152a(5):1283-1284. [9] 辜楠, 胡平, 邱玉芳,等.Wolf-Hirschhorn综合征1例[J].中国实用儿科杂志,2013,28(8):638-640. [10]Gatto A, Ferrara P, Leoni C, et al.Oligonephronia and Wolf-Hirschhorn syndrome: A further observation[J].Am J Med Genet A,2018,176(2):409-414. [11] 施丹华, 毛倩倩, 张玉鑫,等.应用BACs-on-Beads等技术对一例Wolf-Hirschhorn综合征的产前诊断[J].中国优生与遗传杂志,2017,25(2):82-83. [12] 李春艳, 徐慧, 宋婷婷,等.BACs-on-Beads技术对Wolf-Hirschhorn(4p-)综合征的产前诊断[J].中国优生与遗传杂志,2017,25(5):27-28. |
| [1] | OUYANG Lixue, QIE Di, YANG Fan. Value of serum levels of kisspeptin in distinguishing the activation of hypothalamic-pituitary-gonadal axis [J]. Chinese Journal of Child Health Care, 2024, 32(11): 1196-1200. |
| [2] | ZHENG Zhimin, SUN Hao, ZHAO Tingting, XIAO Xuwu. Causal relationship between gut microbiota and short stature based on genome-wide association study data [J]. Chinese Journal of Child Health Care, 2024, 32(11): 1201-1205. |
| [3] | HUANG Xiuping, LU Qingmei, SHANG Xiufen, LUO Yanni, CHEN Yuke, HUANG Lianchun. Psychological and behavioral problems and the influencing factors of children with beta-thalassemia major [J]. Chinese Journal of Child Health Care, 2024, 32(10): 1140-1144. |
| [4] | He Xiumei, Cao Wenqi, WU Honglin, Zhou Qifeng, HE Xiyu. Case report and literarure review of aldosterone synthase deficiency caused by CYP11B2 gene mutation [J]. Chinese Journal of Child Health Care, 2024, 32(10): 1155-1160. |
| [5] | WANG Qiao, GONG Chunxiu. Dietary therapy and challenges for familial chylomicronemia syndrome [J]. Chinese Journal of Child Health Care, 2024, 32(9): 934-936. |
| [6] | WANG Wenlei, ZHANG Jun, HOU Lei, ZHANG Rong, Shamusye Muyiduli, DONG Yan, ZHE Wei, Shawulasi Rejiafu, FANG Ping, Adilah Sulidan. Association of overweight and obesity with blood pressure in children and adolescents aged 7 - 17 years in Xinjiang [J]. Chinese Journal of Child Health Care, 2024, 32(9): 953-957. |
| [7] | CHENG Shuang, WANG Ju. Research progress on the prevention and treatment of cow's milk protein allergy with probiotics, prebiotics, synbiotics and postbiotics [J]. Chinese Journal of Child Health Care, 2024, 32(9): 989-993. |
| [8] | XIE Tingting, PEI Ziyi, ZHANG Yue. Application of music therapy in children's rehabilitation [J]. Chinese Journal of Child Health Care, 2024, 32(9): 1004-1007. |
| [9] | . [J]. Chinese Journal of Child Health Care, 2024, 32(9): 1040-1044. |
| [10] | SUBINUER·shayiti, GAO Wenying, GUO Xinyu, REN Zijin, LI Yunling, ZHANG Ying. Exercise status and influencing factors of school-age Uygur children with asthma in Kashgar area [J]. Chinese Journal of Child Health Care, 2024, 32(8): 838-843. |
| [11] | HE Yuhua, XIONG Fei. Role of telomeres in the relationship between early life adverse environments and metabolic diseases [J]. Chinese Journal of Child Health Care, 2024, 32(8): 886-890. |
| [12] | LU Guoguo, HUANG Xiaojin, LI Guohua, ZHAO Yongli. Meta-analysis on the relationship between serum vitamin D level and nonalcoholic fatty liver disease in adolescents [J]. Chinese Journal of Child Health Care, 2024, 32(8): 897-901. |
| [13] | LUO Guangyue, LU Wei, XU Deyong, QIU Zhengfei, LI Zonglong. Effects of different feeding methods on intestinal microbiota in infants with cow's milk protein allergy [J]. Chinese Journal of Child Health Care, 2024, 32(8): 908-913. |
| [14] | . [J]. Chinese Journal of Child Health Care, 2024, 32(8): 924-928. |
| [15] | CHEN Shun, LIN Xuemei, YUAN Qiaoying, LIU Fang, XIAO Shufang, LE Xiaojing, ZHANG Man, LI Xian. Burden analysis and model prediction of type 1 diabetes mellitus in Chinese children and adolescents from 1990 to 2019 [J]. Chinese Journal of Child Health Care, 2024, 32(7): 746-751. |
| Viewed | ||||||
|
Full text |
|
|||||
|
Abstract |
|
|||||
