Results 31 to 40 of about 29,615 (166)
Zhongshan Daxue xuebao. Yixue kexue ban, 2023 目的探讨无创产前检测（NIPT）提示18-三体高风险胎儿的罕见异常核型起源及对生育的影响。方法产前诊断一例罕见完全性易位型18-三体病例，结合细胞及分子遗传学分析对胎儿染色体异常进行溯源。以“易位型18-三体”、“18-三体易位型”（包括中、英文）为检索词，对PubMed、CNKI、SinoMed文献服务系统、万方数据知识服务平台、维普中文科技期刊数据库及中华医学期刊全文数据库进行检索，收集并分析检索到的病例资料。结果胎儿SNP array提示18-三体，经父母G-显带核型分析验证 ...
叶燕绸 +7 more
doaj +2 more sources
Analysis of regulation of mitotic chromosome dynamics by nucleolar factors [PDF]
, 2012 Thesis (Ph. D.)--University of Tsukuba, (A), no.
藤村 亜紀子
core
野生动物学报, 1985 鸟类的染色体数目、形状以及性染色体迄今,用现化细胞遗传学技术检查的已报导的227种鸟类的染色体二倍体数目的幅度是在52—98之间,众数为80（表1）。由于小型染色体的准确数字计数困难,所以某些数目是近似的,但其它的,特别是对小型染色体数目少的种类,则是准确的。隼属（红隼和Falco biarmicus）的染色体数最低（52）（博尔,1976）,沙锥属（扇尾沙锥）的染色体数则最高（汉玛,1970）,鹤类则为80左右。典型的鸟类染色体组型包含几对大的到中等的染色体,还有若干小型染色体 ...
陈国君
doaj
Ultrasound in Obstetrics &Gynecology, Volume 65, Issue 5, Page 552-559, May 2025.ABSTRACT Objective To critically review the literature and synthesize evidence on the incremental yield of prenatal exome sequencing (PES) in fetuses with an apparently normal phenotype with a normal G‐banded karyotype or chromosomal microarray (CMA).
A. Sotiriadis +5 more
wiley +1 more source
Zhongguo shiyan zhenduanxue, 2021 目的探讨无创产前基因检测(NIPT)技术在产前诊断中的分析效能和临床应用价值。方法回顾性分析2013年9月至2018年12月于北京大学深圳医院就诊的545例NIPT筛查高风险并接受羊水穿刺孕妇(不包括双胎孕妇)的产前诊断结果。结果 545例NIPT高风险的孕妇中,21-三体165例、18-三体67例、13-三体41例、性染色体数目异常202例、常染色体数目异常49例、缺失或重复序列超过10Mb的结构异常病例21例,结合羊水细胞染色体核型分析发现21、18、13及性染色体NIPT假阳性率分别为11.5 ...
王贺, 肖晓素, 西仁娜依
doaj
Veterinary Dermatology, Volume 35, Issue 6, Page 617-625, December 2024.Background – Autosomal recessive ichthyosis leads to structural or biochemical changes that impair skin barrier function. Hypothesis/Objectives – To assess (1) the phenotype and genotype in a litter of Jack Russell Terriers with autosomal recessive congenital ichthyosis (ARCI), and (2) the defective skin barrier and determine if a topical ceramide can ...
Elizabeth Mauldin +7 more
wiley +1 more source
味噌醤油酵母Zygosaccharomyces酵母の接合遺伝子座(mating-type-like (MTL) loci)の多様性 [PDF]
, 2018 Variations of chromosomal structures and nucleotide sequences around mating-type-like (MTL) loci among Zygosaccharomyces species have been reported.
Ogata, Tomoo +2 more
core
Zhongshan Daxue xuebao. Yixue kexue ban, 2000 【目的】探讨染色体异常与习惯性流产的关系。【方法】检测47 对习惯性流产夫妇的外周血淋巴细胞染色体核 型。【结果】47 对习惯性流产夫妇中, 发现9 例染色体异常, 其中男性占5 例, 女性4 例, 包括有染色体异常(平衡易位1 例)和 染色体变异(9 号染色体臂间倒位4 例, 大Y1 例, 大Y 合并1qh +1 例, Yp+2 例)。【结论】习惯性流产除了与染色体异常有 关外, 与染色体异态性也有关联, 而与流产夫妇的性别无关。
侯红瑛 +5 more
doaj
Ultrasound in Obstetrics &Gynecology, Volume 64, Issue 4, Page 470-479, October 2024.ABSTRACT Objectives Our aim was to examine the prenatal profiles of pregnancies affected by an atypical chromosomal aberration, focusing on pathogenic copy‐number variants (pCNVs). We also wanted to quantify the performance of combined first‐trimester screening (cFTS) and a second‐trimester anomaly scan in detecting these aberrations. Finally, we aimed
K. Gadsbøll +6 more
wiley +1 more source
Genetic studies on the behavioral traits of Drosophila Melanogaster [PDF]
, 1981 Thesis--University of Tsukuba, D.Sc.(A), no. 84, 1981.
Akai Sumio, Akai Sumio M., 赤井 住郎
core