trisomy相关论文
目的探讨无创产前检测(non-invasive prenatal testing，NIPT)对于筛查胎儿21、18、13号染色体三体及基因组拷贝数变异(copy number ......
目的探讨胎儿游离DNA（cell-free fetal DNA，cffDNA）检测对13-、18-和21-三体以外的常染色体非整倍体的检测效能及其产前诊断策略。方......
<strong>Introduction</strong><strong>:</strong> Warkany syndrome, also called trisomy 8 mosaicism (T8M), is a rare genet......
目的 探讨产前超声指标评分法对胎儿18三体综合征的诊断价值.方法 采用前瞻性方法对2004年1月至2009年12月在中山大学附属第一医院......
目的探讨孕中期母血清筛查21-三体，18-三体阳性病例的染色体异常情况。方法AFP和Free-heG13用美国PE公司的时间分辨免疫荧光分析系......
Immunohistochemical study on gastroenteric nervous system in trisomy 16 mice:an animal model of Down
AIM To study the development of gastroentericnervous system in trisomy 16 mouse embryos.The gastroenteric nervous system......
目的探讨遗传学超声检查对染色体三体胎儿的诊断价值。分析胎儿各种染色体三体超声波常见的异常。方法经产前诊断确诊为染色体三体......
目的探讨妊娠早期超声标记预测胎儿常见三体综合征(21-三体综合征、18-三体综合征、13-三体综合征)的价值。方法分析2014年9月至20......
An eleven-year-old clinically dysmorphic and devel-opmentally retarded male child presenting with com-plaints of 5 episo......
目的探讨妊娠中晚期产前诊断的指征、染色体异常的常见类型及脐血管穿刺术在产前诊断中的应用。方法收集有产前诊断指征的妊娠中晚......
Optimization of a novel three dimensional risk calculation model for software-based aneuploidy scree
Introduction: A novel three dimensional approach for aneuploidy screening in the first trimester of pregnancy was develo......
Trisomy 13, also known as Patau Syndrome, is a congenital malformation that leads to several ocular anomalies, of which ......
Partial duplication of chromosome 3q is a recognizable syndrome with characteristic facial features, microcephaly, digit......
目的探讨21-三体胎儿产前超声异常表现。方法回顾性分析本院26例21-三体胎儿的产前超声图像特征。结果染色体核型分析21-三体胎儿2......
Noninvasive Prenatal Testing for Fetal Chromosomal Abnormalities Using Massively Parallel Sequencing
Objective: The purpose of this study is to review the clinical experience and performance of noninvasive prenatal testin......
Obstructive Sleep Apnea Syndrome in Two Subjects with Down Syndrome: Continuous Positive Airway Pres
In subjects with Down syndrome the obstructive sleep apnea is the cause of many disorders (cognitive and cardiovascular ......
Obstructive Sleep Apnea Syndrome in Two Subjects with Down Syndrome: Continuous Positive Airway Pres
In subjects with Down syndrome the obstructive sleep apnea is the cause of many disorders (cognitive and cardiovascular ......
<strong>Background</strong>:<span> </span><span>Limited research concerns the study of continuity in the future of the p......
Retrospective Descriptive Analysis of the Combined First Trimester of Pregnancy Screening in the Per
A retrospective descriptive study is conducted at the San Juan de Dios Hospital, San José, Costa Rica, during the p......
A Patient with Trisomy 15 and Subglottic Tracheal Granuloma: Anesthetic Management for Emergency Rig
Trisomy 15 is a rare genetic disorder presenting unique anesthetic challenges. This is a case of a patient with Trisomy ......
Objective:To report the recurrent spontaneous abortion that were caused by the mother's chromosomal rearrangement wh......
At age 5,children with trisomy 21 have roughly 2 years of delayed motor development.We aimed to verify if children with ......
