发育医学电子杂志 Vol. 1 104-105
临床遗传
临床经验交流
248例2 1一三体综合征患儿及其父母染色体核型分析
黎昱 高瑞宏 覃磊 唐苗苗 王德堂 陈必良 张建芳
第四军医大学第一附属医院妇产科，
Chromosomal analysis in 248
patients with
Down’s syndrome and
parental karyotyping
L，地GAO Rui-hong,01N Lei
The lab of Obstitrics and Gynicol,Xijing Hospital,The 4th Army Medical Universitz,Xi：an
摘要 【摘要】 目的对201 1年1月至2012年12月期间因疑似21一三体综合征来就诊的患者及其确诊患儿 父母进行外周血染色体检查。探讨2l一三体综合征患儿与患儿父母染色体核型异常的关系。方法采 用外周血淋巴细胞培养技术，利用常规G显带技术进行染色体核型分析。结果检出2l-三体综合征 248例，单纯型234例，易位型患者12例，嵌合型患者2例。161例患儿父母双方及47例患儿父母一方 进行外周血染色体分析，其中核型多态性占10．3％，易位型占4．3％，臂间倒位占1．1％，双着丝粒占 0．8％。结论21一三体综合征以新发突变为主。
关键词:
font-size:14px 21一三体综合征；患儿父母；细胞遗传学；染色体核型')" href="#">">21一三体综合征；患儿父母；细胞遗传学；染色体核型
Abstract: 【Abstract】Objectives The study was designed to analyze chromosomal abnormalities in peripheral blood of patients with Down’Sa syndrome suspected by clinic，who visited Xijing hospital from Jan．201 1 tO Dec．201 2．Methods Lymphocytes were cultivated in peripheral blood in nutritive medium，and the karyotype was analyzed using G band．Results 248 examples were diagnosed with Down’S syndrome，including 234 cases of standard type，1 2 cases of translocation type，and 2 cases of mosaic type．The chromosomal analysis in parental peripheral blood was applied，including both parents of 161 patients and fathers or mothers of 47 patients．The result showed that the percentage of polymorphism，translocation，pericentric inversion and dicentric chromosome were 10．3％，4．3％，1．1％and 0．8％，respectively．Conclusion New mutation is the major cause of own’S syndrome．
Key words:
own’s syndrome
Patients and their parents：Cytogenetics
Karyotype analysis
出版日期: 2013-04-30
发布日期: 2019-09-07
期的出版日期: 2013-04-30
引用本文:
黎昱 高瑞宏 覃磊 唐苗苗 王德堂 陈必良 张建芳(. 248例2 1一三体综合征患儿及其父母染色体核型分析 [J]. 发育医学电子杂志, 2013, 1(2): 104-105.
Chromosomal analysis in 248
patients with
Down’s syndrome and
parental karyotyping . Journal of Developmental Medicine(Electronic Version), 2013, 1(2): 104-105.
链接本文:
http://www.fyyxzz.com/CN/
或
http://www.fyyxzz.com/CN/Y2013/V1/I2/104
[1]
GAO Xiao-hui, MAO Jian. Clinical features of non-oliguric hyperkalemia in extremely low birth weight infants
[2]
Society of Neonatologist, Chinese Medical Doctor Association. Consensus recommendations on the prevention and early management of respiratory distress syndrome in preterm infants
[3]
Professional Committee of Respiratory, Society of Neonatologist, Chinese Medical Doctor Association. Clinical application recommendations for heated humidified high flow nasal cannula
[4]
YAN Jun, ZHU Xing-wang, SHI Yuan. Application progress of noninvasive ventilate technique for premature infants
[5]
GU Min-fang, YANG Chuan-zhong. Progress of intrapartum resuscitation for premature infants
[6]
LIU Shu-hua, SHEN Yue-bo, LIU Cui-qing, MA Li. The efficacy of pulmonary surfactant for pulmonary function in premature tension pneumothorax
[7]
GAO Xiao-hui, MAO Jian. Clinical features of non-oliguric hyperkalemia in extremely low birth weight infants
[8]
XIA Yao-fang, YANG Juan , TIAN Bao-li, et al. Value of amplitude-integrated electroencephalography in monitoring acute period of neonatal bilirubin encephalopathy and prognostic assessment
[9]
WANG Li-rong, SUN Xiao-yan, ZHU Ruo-xin, et al. Epidemiological investigation and analysis of women aged 40-55 years old with osteoporosis in Gansu province
[10]
CHEN Ru-yue, SHEN Yun-yan, CHEN Qing , et al. Five cases about Henoch-Schönlein purpura complicated with central nervous system injury in children and literatures review
Viewed
Full text
Abstract
Cited
Shared
Discussed
2013, Vol. 1 
