1) 22q11 duplication
22q11微重复
1.
Results MLPA demonstrated that 7 cases had 22q11 deletion [6 cases from CLTCL1 to LZTR1( LCR A-D) and 1 case from CLTCL1 to PCQAP ( LCR A-C) ]and that 1 case had 22q11 duplication,spanning from ZNF74 to LZTR1( LCR B-D).
结果195例患儿中,共检出22q11微缺失者7例(LCRA-D区6例,LCRA-C区1例),22q11微重复1例(LCRB-D区),涉及的CHD类型包括室间隔缺损、房室间隔缺损、肺动脉狭窄和法洛四联征。
2) 22q11 microdeletion
22q11微缺失
1.
Detection and related analysis to chromosome 22q11 microdeletion in patients with congenital heart diseases;
先天性心脏病患者22q11微缺失检测及相关分析
2.
Objective: The purpose of this study was to determine the frequency of 22q11 microdeletions in pediatric patients with simple congenital heart disease, the parental origin of the deleted chromosome, and relation of genotype to phenotypes.
目的：检测单纯性先天性心脏病的患儿22q11微缺失的发生率及缺失来源与临床表型的关系，从遗传学角度探讨单纯性先天性心脏病发生的遗传学病因。
3.
Reports showed that the major cardiac abnormality was conotruncal defects in patients with 22q11 microdeletion syndrome,while some patients with conotruncal defects had 22q11 microdeletion.
研究证实,圆锥动脉干畸形是22q11微缺失综合征最常见的心脏表现,而部分圆锥动脉干畸形患者存在22q11微缺失。
6) Microsatellite repeats
微随体重复
补充资料：[3-(aminosulfonyl)-4-chloro-N-(2.3-dihydro-2-methyl-1H-indol-1-yl)benzamide]
分子式：C16H16ClN3O3S
分子量：365.5
CAS号：26807-65-8
性质：暂无
制备方法：暂无
用途：用于轻、中度原发性高血压。
分子量：365.5
CAS号：26807-65-8
性质：暂无
制备方法：暂无
用途：用于轻、中度原发性高血压。
说明：补充资料仅用于学习参考，请勿用于其它任何用途。
参考词条