mosaicism相关论文
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The aim of this study was to design a molecular assay for the diagnosis of Klinefelter syndrome(KS), based on the detect......
Quantitative features of SCN1A associated epilepsies:relationships among genotype,functional alterat
Mutations in SCN1A gene have been identified in epilepsies with widely variable severity,ranging from the extremely seve......
The SCN1A mutation database: updating information and analysis on relations among genotype,functiona
Mutations in SCN1A gene have been identified in patients of epilepsy with widely varying phenotype and inheritance, and ......
Use of fetal fraction estimation from different chromosomes to detect fetal mosaicism in noninvasive
Background A 38-year old female received NIPT at 13+5 weeks gestation following a previously described protocol (1).The ......
Molecular and Cytogenetic Characterization of a Fetus with Mosaic Ring Chromosome 13: A Very Rare Ca
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Isodicentric chromosomes are a frequently appearing abnormality in the human Y chromosome. Making predictions regarding ......
目的:探讨1例由KMT2D基因嵌合移码变异所致的Kabuki综合征1型患儿的基因型与表型的对应关系。方法:采用全外显子测序对家系进行检......
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......
目的探讨孕中期产前诊断羊水染色体嵌合体的临床指征及妊娠结局。方法对2011年5月至2016年10月,在我院行羊水染色体核型分析诊断疑......
MosaicBase:A Knowledgebase of Postzygotic Mosaic Variants in Noncancer Disease-related and Healthy H
Mosaic variants resulting from postzygotic mutations are prevalent in the human genome and play important roles in human......
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Cytogenetic Mechanism for the Aneuploidy and Mosaicism Found in Tetraploid Pacific Oyster Crassostre
Chromosome constitution was investigated in adult tetraploid Pacific oyster produced by blocking the first polar body of......
<strong>Introduction</strong><strong>:</strong> Warkany syndrome, also called trisomy 8 mosaicism (T8M), is a rare genet......
In the case of a previous offspring with trisomy 21,recurrence risk for Down syndrome is about 1%.1 It may be due to cha......
BACKGROUND Turner syndrome(TS)has a variety of different karyotypes,with a wide range of phenotypic features,but the spe......
SRY-negative 45,X/46,XY adult male with complete masculinization and infertility:A case report and r
BACKGROUND 45,X/46,XY mosaicism is a rare chromosomal abnormality with a wide range ofphenotypes in both males and femal......
临床上观察到具有45，X核型的Turner氏综合征的病人具有轻、重不同的临床表现。而文献资料表明成人的性染色体相嵌型是稳定的，那么临......
报告了1头亚二倍体嵌合体的母猪（403号）。在所检查的19个中期相细胞中，染色体组型为36，XX，－4D，＋2rob(15;17)的核型有4个（21％）；37，XX，－2D，＋rob(15;17)......
目的：对1个同时存在血友病A（HA）及血友病B（HB）患者的家系进行分子发病机制研究,并对家系女性成员进行携带者检测。方法：采用活化部分凝血......
目的对染色体嵌合型的病例运用荧光原位杂交技术（FISH）进行目标染色体诊断。方法对1例常规G带显色分析后疑似为性染色体嵌合体核型者......
Background: Progressive cribriform and zosteriform hyperpigmentation (PCZH) is a disorder of pigmentation. Although seve......
Background: Progressive cribriform and zosteriform hyperpigmentation (PCZH) is a disorder of pigmentation. Although seve......
Pigmentary mosaicism is proposed to encompass all pigment anomalies caused by chromosomal mosaicism.The concept includes......
This paper tries to present new confirmation for the opinion about the infectious origin of atherosclerosis from the vie......
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......
Cytogenetic Mechanism for the Aneuploidy and Mosaicism Foundin Tetraploid Pacific Oyster Crassostrea
Chromosome constitution was investigated in adult tetraploid Pacific oyster produced by blocking the first polar body of......
