染色体22q11．2微缺失综合征的临床诊断
被引量：1
摘要
22q11．2缺失综合征（22@1．2deletion syndrome，22@1．2DS）主要包括了以临床特征定义的DiGeorge综合征（DiGeorge syndrome，DGS）、
出处
《中华围产医学杂志》
CAS
2011年第8期503-507,共5页
Chinese Journal of Perinatal Medicine
参考文献40
-
1Bassett AS, Chow EWC, H usted J, et al. Clinical features of 78 adults with 22qll deletion syndrome. Am J Med Genet A, 2005, 138,307-313.
-
2Agergaard P, Hebert A, Sorensen KM, et al. Can clinical assessment detect 22q11.2 deletions in patients with cardiac malformations.9 Eur J Med Genet, 2010, 10 : 1-6.
-
3Bartsch O, Nemeckova M, Kocarek E, et al. DiGeorge/ velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion. AmJ MedGenet A, 2003, 117:1-5.
-
4Webber SA, Hatchwell E, Barber JC, et al. Importance of microdeletions of chromosomal region 22q11 as a cause of selected malformations of the ventricular outflow tracts and aortic arch: a three-year prospective study. J Pediatr, 1996, 129,26-32.
-
5Arnold PD, Richter MA. Is obsessive-compulsive disorder an autoimmune disease? CMAJ, 2001, 165:1353-1358.
-
6De Luca A, Conti E, Grifone N, et al. Association study between CAG trinucleotide repeats in the PCQAP gene (PC2 glutamine/Q-rich-associated protein) and schizophrenia. Am J Med Genet B Neuropsychiatr Genet, 2003, 116:32-35.
-
7Laiiness-O'Neill RR, Beaulieu I, Titus JB, et al. Memory and learning in children with 22q11. 2 deletion syndrome: evidence for ventral and dorsal stream disruption? Child Neuropsychol, 2005, 11 :55-71.
-
8Oskarsdottir S, Belfrage M, Sandstedt E, et al. Disabilities and cognition in children and adolescents with 22q11 deletion syndrome. Dev Med Child Neurol, 2005, 47 : 177-184.
-
9Briegel W, Schneider M, Schwab KO. 22q11. 2 deletion syndrome: behavior problems of children and adolescents and parental stress. Child Care Health Dev, 2008, 34:795-800.
-
10Sigurdsson T, Stark KL, Karayiorgou M, et al. Impairedhippocampal-prefrontal synchrony in a genetic mouse model of schizophrenia. Nature, 2010, 464 : 763-767.
同被引文献3
-
1闫亚妮,吴青青,姚苓,王欣,山丹,安园园,高凤云.胎儿先天性心脏病与染色体及22q11微缺失异常的临床研究[J].西安交通大学学报（医学版）,2014,35(2):249-253. 被引量：14
-
2蔡美英,黄海龙,林娜,郭南,吴小青,苏林涓,徐两蒲.22q11微缺失综合征的产前诊断[J].中华医学遗传学杂志,2017,34(2):192-195. 被引量：4
-
3潘虹.22q11．2微缺失综合征[J].中华围产医学杂志,2018,21(1):2-5. 被引量：11
-
1张一鸣,祝捷,肖淳纯,邢学农,叶山东.22q11．2经典微缺失所致DiGeorge综合征一例[J].中华内分泌代谢杂志,2017,33(2):150-152. 被引量：2
-
2李斌,张卉,范太兵,彭帮田,石磊,程兆云,高传玉.法洛四联症并DiGcorge综合征的临床研究[J].中华实用儿科临床杂志,2016,31(1):74-76. 被引量：2
-
3李斌,胡曼曼,石磊,范太兵.法洛四联症合并DiGeorge综合征的临床特征分析[J].中华实用儿科临床杂志,2015,30(18):1409-1411. 被引量：1
-
4邓永键,唐娜,赵亮,陈娟芝,丁彦青,乔东访.婴幼儿DiGeorge综合征五例尸体解剖病理分析[J].中华病理学杂志,2012,41(11):742-746. 被引量：2
-
5罗会昭,詹樾,胡建国,周新民,尹邦良.右肺动脉起源升主动脉合并DiGeorge综合征1例[J].中华胸心血管外科杂志,1997,13(2):97-98.
-
6白晓明(综述),赵晓东(审校).筛查染色体22q11．2缺失综合征在先天性心血管畸形中的意义[J].国际儿科学杂志,2011,38(3):216-220. 被引量：5
-
7肖琴,张国英,陈丽娜.完全DiGeorge综合征1例分析及文献复习[J].中外医学研究,2010,8(30):195-196. 被引量：2
-
8潘高峰,李斌.DiGeorge综合征3例诊治体会[J].郑州大学学报（医学版）,2010,45(1):153-155. 被引量：4
-
9罗开菊,陈平洋,李雯.新生儿DiGeorge综合征1例报告[J].中国当代儿科杂志,2014,16(9):949-951. 被引量：3
-
10吴绿仙,徐丽丹,包云光.DiGeorge综合征一例[J].中华医学遗传学杂志,2015,32(5):744-744.
