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Molecular cytogenetics

中文名称：分子细胞遗传学

ISSN：1755-8166
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1.Application of chromosomal microarray analysis in products of miscarriage

机译：染色体微阵列分析在流产产品中的应用
- 作者：Xiangyu Zhu;Jie Li;Yujie Zhu;Wanjun Wang;Xing Wu;Ying Yang;Leilei Gu;Yuanyuan Gu;Yali Hu
- 期刊名称：《Molecular cytogenetics》 | 2018年第1期
- Chromosomal microarray analysisGenetic testingMicroarrayMiscarriageSpontaneous abortion;
2.Publisher Correction: Is DNA methylation the new guardian of the genome?

机译：出版商校正：DNA甲基化是基因组的新监护人吗？
- 作者：Robert M. Hoffman
- 期刊名称：《Molecular cytogenetics》 | 2018年第1期
3.Investigation of copy number variations on chromosome 21 detected by comparative genomic hybridization (CGH) microarray in patients with congenital anomalies

机译：先天性异常患者对比较基因组杂交（CGH）微阵列检测染色体21的拷贝数变化研究
- 作者：Wenfu Li;Xianfu Wang;Shibo Li
- 期刊名称：《Molecular cytogenetics》 | 2018年第1期
- CNVCXADRChromosome 21DYRK1AGenotypephenotype associationMicroarray;
4.13q mosaic deletion including RB1 associated to mild phenotype and no cancer outcome – case report and review of the literature

机译：13q马赛克缺失，包括与轻度表型相关的RB1，没有癌症结果 - 案例报告和文献的审查
- 作者：Ilaria Bestetti;Alessandra Sironi;Ilaria Catusi;Milena Mariani;Daniela Giardino;Siranoush Manoukian;Donatella Milani;Lidia Larizza;Chiara Castronovo;Palma Finelli
- 期刊名称：《Molecular cytogenetics》 | 2018年第1期
- 13q deletion syndromeArray CGHInterphase FISHMosaicismRB1;
5.Molecular cytogenetic identification of three rust-resistant wheat-Thinopyrum ponticum partial amphiploids

机译：三种防锈小麦 - 薄吡喃吡吡鲁姆宫内两倍吡喃葡萄水的分子细胞遗传学鉴定
- 作者：Yanru Pei;Yu Cui;Yanping Zhang;Honggang Wang;Yinguang Bao;Xingfeng Li
- 期刊名称：《Molecular cytogenetics》 | 2018年第1期
- Common wheatIn situ hybridizationLeaf rustPartial amphiploidsStripe rustThinopyrum ponticum;
6.Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22

机译：含有R（22）的女孩的复合表型，伴随微缺乏术22Q.32-Q13.33和马赛克单兆字节22
- 作者：Anna A. Kashevarova;Elena O. Belyaeva;Aleksandr M. Nikonov;Olga V. Plotnikova;Nikolay A. Skryabin;Tatyana V. Nikitina;Stanislav A. Vasilyev;Yulia S. Yakovleva;Nadezda P. Babushkina;Ekaterina N. Tolmacheva;Mariya E. Lopatkina;Renata R. Savchenko;Lyudmila P. Nazarenko;Igor N. Lebedev
- 期刊名称：《Molecular cytogenetics》 | 2018年第1期
- Chromosome 22 monosomyCompound phenotypeFAM19A5 genePhelanMcDermid syndromeRing chromosome 22;
7.Understanding aneuploidy in cancer through the lens of system inheritance, fuzzy inheritance and emergence of new genome systems

机译：通过系统遗传的镜片，模糊遗传和新基因组系统的出现，了解癌症中的一种单倍性
- 作者：Christine J. Ye;Sarah Regan;Guo Liu;Sarah Alemara;Henry H. Heng
- 期刊名称：《Molecular cytogenetics》 | 2018年第1期
- Adaptive systemAneuploidyCancer evolutionComplexityEmergence of new genomeFuzzy inheritanceGenome theoryNonclonal chromosome aberrations (NCCAs)Punctuated evolutionSystem inheritance;
8.Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement

机译：罕见的患者遗传复合染色体重排中全基因组伴侣对鉴定的隐秘断点
- 作者：Constantia Aristidou;Athina Theodosiou;Andria Ketoni;Mads Bak;Mana M. Mehrjouy;Niels Tommerup;Carolina Sismani
- 期刊名称：《Molecular cytogenetics》 | 2018年第1期
- CCRCryptic breakpointFamilialPaternal transmissionReproductive problemsWGMPS;
9.Cytogenomic characterization of 1q43q44 deletion associated with 4q32.1q35.2 duplication and phenotype correlation

机译：1Q4344缺失的细胞蛋白表征与4Q32.1Q35.2重复和表型相关性相关
- 作者：A. M. Mohamed;H. T. El-Bassyouni;A. M. El-Gerzawy;S. A. Hammad;N. A. Helmy;A. K. Kamel;S. I. Ismail;M. Y. Issa;O. Eid;M. S. Zaki
- 期刊名称：《Molecular cytogenetics》 | 2018年第1期
- Chromosome 1q43q44 deletion syndromeChromosome 4 duplication syndromeHypogenesis of corpus callosumMicrocephalyMultiple abnormalities;
10.Loss of DMRT1 gene in a Mos 45,XY,-9[8]/46,XY,r(9)[29]/47,XY,+idic r(9)×?2[1]/46,XY,idic r(9)[1]/46,XY[1] female presenting with short stature

机译：MOS 45，XY，-9 [8] / 46，XY，R（9）[29] / 47，XY，XY，+ IDIC R（9）×2 [1] / 46，xy， IDIC R（9）[1] / 46，XY [1]女性呈现短地形
- 作者：Bagas A. Marsudi;Hannie Kartapradja;Chrysantine Paramayuda;Jose R. L. Batubara;Alida R. Harahap;Nanis S. Marzuki
- 期刊名称：《Molecular cytogenetics》 | 2018年第1期
- 46,XYDSDDMRT1Ringchromosome9SexreversalShortstature;
11.Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases

机译：Pallister-Killian综合征：15例临床，细胞遗传学和分子结果
- 作者：Birsen Karaman;Hülya Kayserili;Asadollah Ghanbari;Zehra Oya Uyguner;Güven Toksoy;Umut Altunoglu;Seher Basaran
- 期刊名称：《Molecular cytogenetics》 | 2018年第1期
- Isochromosome 12pMosaic tetrasomy 12pOMIM 601803PallisterKillian syndromeParental originSmall supernumerary marker chromosomeSomatic mosaicism;
12.A foetus with 18p11.32-q21.2 duplication and Xp22.33-p11.1 deletion derived from a maternal reciprocal translocation t(X;18)(q13;q21.3)

机译：具有18p11.32-q21.2的胎儿和XP22.33-p11.1缺失衍生自母体互易易位T（x; 18）（Q13; Q21.3）
- 作者：Jun-Kun Chen;Ping Liu;Li-Qin Hu;Qing Xie;Quan-Fei Huang;Hai-Liang Liu
- 期刊名称：《Molecular cytogenetics》 | 2018年第1期
- Subchromosomal abnormalitiesThe noninvasive prenatal testing (NIPT)Unbalanced translocationXchromosome inactivation;
13.Chromosomes of Asian cyprinid fishes: cytogenetic analysis of two representatives of small paleotetraploid tribe Probarbini

机译：亚洲鳖鱼类的染色体：小古单左侧部落部件两种代表的细胞遗传学分析
- 作者：Pasakorn Saenjundaeng;Marcelo de Bello Cioffi;Ezequiel Aguiar de Oliveira;Alongklod Tanomtong;Weerayuth Supiwong;Sumalee Phimphan;Maria Jo?o Collares-Pereira;Alexandr Sember;Luiz Antonio Carlos Bertollo;Thomas Liehr;Cassia Fernanda Yano;Terumi Hatanaka;Petr Ráb
- 期刊名称：《Molecular cytogenetics》 | 2018年第1期
- Chromosomal markersCyprinidaeFish cytogeneticsMicrosatellitesrDNAs;
14.Chromosomal abnormalities and copy number variations in fetal ventricular septal defects

机译：胎儿间隔缺损的染色体异常和拷贝数变异
- 作者：Meiying Cai;Hailong Huang;Linjuan Su;Na Lin;Xiaoqing Wu;Xiaorui Xie;Gang An;Ying Li;Yuan Lin;Liangpu Xu;Hua Cao
- 期刊名称：《Molecular cytogenetics》 | 2018年第1期
- Chromosomal abnormalityChromosomal microarray analysisPrenatal diagnosisVentricular septal defects;
15.Genetic analysis of products of conception using a HLPA/SNP-array strategy

机译：利用HLPA / SNP阵列策略的概念遗传分析
- 作者：Jun Mao;Huiling Wang;Haibo Li;Xiaoyan Song;Ting Wang;Jingjing Xiang;Hong Li
- 期刊名称：《Molecular cytogenetics》 | 2019年第1期
- HLPASNParraychromosomal abnormalitymiscarriageproducts of conception;
16.Unique amplification of BCR-ABL1 gene fusion in a case of T-cell acute lymphoblastic leukemia

机译：在T细胞急性淋巴细胞白血病的情况下，BCR-ABL1基因融合的独特扩增
- 作者：Rima Koka;Najeebah A. Bade;Edward A. Sausville;Yi Ning;Ying Zou
- 期刊名称：《Molecular cytogenetics》 | 2017年第1期
- BCR/ABLDerivative chromosome 9Gene amplificationIsodicentric chromosome 22Tlymphoblastic leukemia;
17.Mosaic UPD(7q)mat in a patient with silver Russell syndrome

机译：Mosaic Upd（7Q）垫在患者中有银色罗素综合征
- 作者：Jiasun Su;Jin Wang;Xin Fan;Chunyun Fu;ShuJie Zhang;Yue Zhang;Zailong Qin;Hongdou Li;Jingsi Luo;Chuan Li;Tingting Jiang;Yiping Shen
- 期刊名称：《Molecular cytogenetics》 | 2017年第1期
- Maternal uniparental disomyMosaicismSilverRussell syndrome;
18.De novo paternal origin duplication of chromosome 11p15.5: report of two Chinese cases with Beckwith-Wiedemann syndrome

机译：De Novo父母染色体重复染色体11p15.5：两种中国案件与贝克韦氏综合征的报告
- 作者：Qin Wang;Qian Geng;Qinghua Zhou;Fuwei Luo;Peining Li;Jiansheng Xie
- 期刊名称：《Molecular cytogenetics》 | 2017年第1期
- Beckwith–Wiedemann syndrome (BWS)Chromosomal microarray analysis(CMA)Chromosome 11p15.5Imprinting centers (IC)Methylationspecific multiplex ligationdependent probe amplification (MSMLPA)Paternal duplication;
19.Molecular characterization and evaluation of complex rearrangements in a case of ring chromosome 15

机译：环染色体15例中复复重排列的分子特征及评价
- 作者：Stuti Tewari;Naznin Lubna;Raju Shah;Ahmed B. H. Al-Rikabi;Krati Shah;Jayesh Sheth;Frenny Sheth
- 期刊名称：《Molecular cytogenetics》 | 2017年第1期
- Arraycomparative genomic hybridization (aCGH)Duplication/deletionIGF1R geneMicrocephalyRing chromosome 15;
20.CMA analysis identifies homozygous deletion of MCPH1 in 2 brothers with primary Microcephaly-1

机译：CMA分析识别2兄弟的纯合缺失Microcephaly-1
- 作者：Morteza Hemmat;Melissa J Rumple;Loretta W Mahon;Melanie Morrow;Tamara Zach;Arturo Anguiano;Mohamed M Elnaggar;Boris T Wang;Fatih Z Boyar
- 期刊名称：《Molecular cytogenetics》 | 2017年第1期
- MCPH1 geneMicrodeletionPrimary microcephaly;
21.X-derived marker chromosome in patient with mosaic Turner syndrome and Dandy-Walker syndrome: a case report

机译：X衍生的标志物染色体在患者患者综合征和Dandy-Walker综合征：案例报告
- 作者：Alena S. Telepova;Svetlana A. Romanenko;Natalya A. Lemskaya;Yulia V. Maksimova;Asia R. Shorina;Dmitry V. Yudkin
- 期刊名称：《Molecular cytogenetics》 | 2017年第1期
- DandyWalker syndromeMarker chromosomeTurner syndromeXchromosome;
22.Comparative cytogenetics in three Sciaenid species (Teleostei, Perciformes): evidence of interspecific chromosomal diversification

机译：三种Sciaenid物种中的比较细胞源（Teleostei，Perciformes）：染色体多样化的证据
- 作者：Dongdong Xu;Wagner Franco Molina;Cassia Fernanda Yano;Yurong Zhang;Ezequiel Aguiar de Oliveira;Bao Lou;Marcelo de Bello Cioffi
- 期刊名称：《Molecular cytogenetics》 | 2017年第1期
- Chromosome evolutionPericentric inversionsRepetitive sequencesSciaenidaeU2 snRNA;
23.Haploinsufficiency of BMP4 and OTX2 in the Foetus with an abnormal facial profile detected in the first trimester of pregnancy

机译：BMP4和OTX2在胎儿中的BMP4和OTX2，在怀孕的第一个三个月中检测到异常的面部轮廓
- 作者：Pavlina Capkova;Alena Santava;Ivana Markova;Andrea Stefekova;Josef Srovnal;Katerina Staffova;Veronika Durdová
- 期刊名称：《Molecular cytogenetics》 | 2017年第1期
- First trimester ultrasoundMicrodeletion 14q22q23MicrognathiaPierre Robin sequence;
24.An improved method for inducing prometaphase chromosomes in plants

机译：一种诱导植物常磷酸染色体的改进方法
- 作者：Agus Budi Setiawan;Chee How Teo;Shinji Kikuchi;Hidenori Sassa;Takato Koba
- 期刊名称：《Molecular cytogenetics》 | 2018年第1期
- Abelia × grandifloraChloroformCucumis meloFISHPachytenePrometaphase;
25.Performance of non-invasive prenatal testing for trisomies 21 and 18 in twin pregnancies

机译：双胞胎21和18中的非侵入性产前试验的表现
- 作者：Jiexia Yang;Yiming Qi;Yaping Hou;Fangfang Guo;Haishan Peng;Dongmei Wang;O. Y. Haoxin;Yixia Wang;Huajie Huang;Aihua Yin
- 期刊名称：《Molecular cytogenetics》 | 2018年第1期
- AmniocentesisAssisted reproductive techniques (ART)Noninvasive prenatal testing (NIPT)Trisomy 21Twin pregnancy;
26.The decision on the embryo to transfer after Preimplantation Genetic Diagnosis for X-autosome reciprocal translocation in male carrier

机译：在雄性载体中X-Autosome互易易位预体遗传诊断后胚胎转移的决定
- 作者：Sandrine Chamayou;Maria Sicali;Debora Lombardo;Carmelita Alecci;Antonino Guglielmino
- 期刊名称：《Molecular cytogenetics》 | 2018年第1期
- Genetic counselingPreimplantation genetic diagnosisReciprocal translocationX inactivationXautosome Translocation;
27.Novel phenotype of 5p13.3-q11.2 duplication resulting from supernumerary marker chromosome 5: implications for management and genetic counseling

机译：富有数标志物染色体5p13.3-Q11.2的新表型5：染色体5：管理和遗传咨询的影响
- 作者：Margaret E. Armstrong;David D. Weaver;Melissa D. Lah;Gail H. Vance;Benjamin J. Landis;Stephanie M. Ware;Benjamin M. Helm
- 期刊名称：《Molecular cytogenetics》 | 2018年第1期
- 5p13 duplicationAortic aneurysmChromosome 5Genotypephenotype correlationSupernumerary marker chromosome;
28.Submicroscopic chromosomal imbalances contribute to early abortion

机译：亚颌骨染色体失衡有助于早期堕胎
- 作者：Haibo Li;Minjuan Liu;Min Xie;Qin Zhang;Jingjing Xiang;Chengying Duan;Yang Ding;Yinghua Liu;Jun Mao;Ting Wang;Hong Li
- 期刊名称：《Molecular cytogenetics》 | 2018年第1期
- AbortionChorionic villusChromosomal abnormalityKaryotype analysis;
29.The application of NIPT using combinatorial probe-anchor synthesis to identify sex chromosomal aneuploidies (SCAs) in a cohort of 570 pregnancies

机译：NIPT使用组合探针锚合成的应用识别570次妊娠队列中性染色体非倍增物（SCAS）
- 作者：Hongge Li;Yu Lei;Hui Zhu;Yuqin Luo;Yeqing Qian;Min Chen;Yixi Sun;Kai Yan;Yanmei Yang;Bei Liu;Liya Wang;Yingzhi Huang;Junjie Hu;Jianyun Xu;Minyue Dong
- 期刊名称：《Molecular cytogenetics》 | 2018年第1期
- Combinatorial probeanchor synthesis (CPAS)Noninvasive prenatal testing (NIPT)Sex chromosomal aneuploidies (SCAs);
30.VIII World Rett Syndrome Congress & Symposium of rare diseases, Kazan, Russia

机译：VIII世界权利综合征大会与稀有疾病，俄罗斯喀山的讨论会
- 作者：Ivan Y. Iourov;Svetlana G. Vorsanova;Yuri B. Yurov;Thomas Bertrand
- 期刊名称：《Molecular cytogenetics》 | 2018年第1期
- Chromosome XRare chromosome disordersRare disordersRett syndromeTranslational medical research;
31.Importance and usage of chromosomal microarray analysis in diagnosing intellectual disability, global developmental delay, and autism; and discovering new loci for these disorders

机译：染色体微阵列分析在诊断智力残疾，全球发展延迟和自闭症中的重要性和用法;并为这些疾病发现新的基因座
- 作者：Ahmet Cevdet Ceylan;Senol Citli;Haktan Bagis Erdem;Ibrahim Sahin;Elif Acar Arslan;Murat Erdogan
- 期刊名称：《Molecular cytogenetics》 | 2018年第1期
- 22q11.2 homozygote duplicationChromosomal microarrayCopy number variationsGlobal developmental delayIntellectual disability;
32.Maternal interchromosomal insertional translocation leading to 1q43-q44 deletion and duplication in two siblings

机译：孕产妇的同胞形式插入易位导致两个兄弟姐妹1q43-q44删除和重复
- 作者：Aixiang Luo;Dehua Cheng;Shimin Yuan;Haiyu Li;Juan Du;Yang Zhang;Chuanchun Yang;Ge Lin;Wenyong Zhang;Yue-Qiu Tan
- 期刊名称：《Molecular cytogenetics》 | 2018年第1期
- Congenital anomalyInsertional translocationPure 1q43q44 deletion/duplicationWholegenome sequencing;
33.Application of chromosomal microarray to investigate genetic causes of isolated fetal growth restriction

机译：染色体微阵列探讨孤立胎儿生长限制遗传原因的应用
- 作者：Gang An;Yuan Lin;Liang Pu Xu;Hai Long Huang;Si Ping Liu;Yan Hong Yu;Fang Yang
- 期刊名称：《Molecular cytogenetics》 | 2018年第1期
- Chromosomal microarrayFetal growth restrictionKaryotype analysisPrenatal diagnosisUniparental disomy;
34.Monosomy chromosome 21 compensated by 21q22.11q22.3 duplication in a case with small size and minor anomalies

机译：单体染色体21在具有小尺寸和轻微异常的情况下补偿21 Q22.11q22.3重复
- 作者：Meng Su;Paul J. Benke;Guney Bademci;Filiz Basak Cengiz;Xiaomei Ouyang;Jinghong Peng;Carmen E. Casas;Mustafa Tekin;Yao-Shan Fan
- 期刊名称：《Molecular cytogenetics》 | 2018年第1期
- Chromosome 21DeletionDuplicationPartial monosomyPartial uniparental disomy;
35.Analysis of the accuracy of Z-scores of non-invasive prenatal testing for fetal Trisomies 13, 18, and 21 that employs the ion proton semiconductor sequencing platform

机译：胎儿三术13,18和21的非侵入性产前试验的Z分数的准确性分析，该胎儿三粒子13,18和21采用离子质子半导体测序平台的21
- 作者：Yuan Tian;Linlin Zhang;Weifang Tian;Jinshuang Gao;Liting Jia;Shihong Cui
- 期刊名称：《Molecular cytogenetics》 | 2018年第1期
- Confined placental mosaicism (CPM)False positiveNoninvasive prenatal testing (NIPT)Trisomies;
36.Familiar unbalanced complex rearrangements involving 13 p-arm: description of two cases

机译：熟悉涉及13个P-ARM的熟悉的不平衡复制重排：两个案例的描述
- 作者：Donatella Conconi;Nicoletta Villa;Serena Redaelli;Elena Sala;Francesca Crosti;Silva Maitz;Miriam Rigoldi;Rossella Parini;Leda Dalprà;Marialuisa Lavitrano;Gaia Roversi
- 期刊名称：《Molecular cytogenetics》 | 2018年第1期
- ArrayCGHChromosome 13 p armCopy number variationsFISHUnbalanced translocation;
37.Maternal uniparental isodisomy for chromosome 6 discovered by paternity testing: a case report

机译：父亲装载型患者染色体患者染色体检测：案例报告
- 作者：Elizabeth R. Kerr;Gary M. Stuhlmiller;George C. Maha;Mark A. Ladd;Fady M. Mikhail;Ruth P. Koester;Anna C. E. Hurst
- 期刊名称：《Molecular cytogenetics》 | 2018年第1期
- Chromosome 6IsodisomyMaternal uniparental disomyPaternity testing;
38.Rare cytogenetic abnormalities and their clinical relevance in pediatric acute leukemia of Saudi Arabian population

机译：罕见的细胞遗传学异常及其在沙特阿拉伯人口小儿急性白血病中的临床相关性
- 作者：Nawaf Alkhayat;Ghaleb Elyamany;Yasser Elborai;Qanita Sedick;Mohammad Alshahrani;Omar Al Sharif;Abdulmalik Alenezy;Amjad Hammdan;Hatem Elghezal;Omar Alsuhaibani;Mansour S. Aljabry;May AlMoshary;Eman Al Mussaed
- 期刊名称：《Molecular cytogenetics》 | 2019年第1期
- Acute leukemiaOutcomePediatricRare chromosomal abnormalities;
39.C-banding and AgNOR-staining were still effective complementary methods to indentify chromosomal heteromorphisms and some structural abnormalities in prenatal diagnosis

机译：C-染色和染色仍然是有效的互补方法，以鉴定染色体异常和产前诊断中的一些结构异常
- 作者：Jian Jiang Zhu;Hong Qi;Li Rong Cai;Xiao Hui Wen;Wen Zeng;Guo Dong Tang;Yao Luo;Ran Meng;Xue Qun Mao;Shao Qin Zhang
- 期刊名称：《Molecular cytogenetics》 | 2019年第1期
- AgNORstainingCbandingChromosomal heteromorphismsChromosomal structural abnormalityPrenatal diagnosisRecurrent spontaneous abortion;
40.Chromoanagenesis: cataclysms behind complex chromosomal rearrangements

机译：染色体缩大：复杂染色体重排背后的灾难
- 作者：Franck Pellestor
- 期刊名称：《Molecular cytogenetics》 | 2019年第1期
- CancerChromoanagenesisChromoanasynthesisChromoplexyChromothripsisDoublestrand breaksEvolutionGenome instabilityMicronucleusReplicationTelomeres;
41.A patient with a diagnosis of nodal marginal zone B-cell lymphoma and a t(2;14)(p24;q32) involving MYCN and IGH

机译：患者诊断节点边缘区B细胞淋巴瘤的患者和涉及MYCN和IGH的T（2; 14）（P24; Q32）
- 作者：Angela Brown;Isabella Sciascia-Visani;Dianna Farrell;Meg Smith;Clive Felix;Vanaja Mutharajah;Jackie Ruell;Graeme Taylor
- 期刊名称：《Molecular cytogenetics》 | 2019年第1期
- MYCNMarginal zone Bcell lymphomaTranslocation;
42.Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization

机译：四术18P综合征九种新病例中的临床和分子结果：鱼类和阵列CGH表征
- 作者：Wafa Slimani;Hela Ben Khelifa;Sarra Dimassi;Fatma-Zohra Chioukh;Afef Jelloul;Molka Kammoun;Hanene Hannachi;Sarra Bouslah;Nesrine Jammali;Damien Sanlaville;Ali Saad;Soumaya Mougou-Zerelli
- 期刊名称：《Molecular cytogenetics》 | 2019年第1期
- Array CGHFISHSmall supernumerary chromosome markerTetrasomy 18p;
43.Genetic testing for Prader-Willi syndrome and Angelman syndrome in the clinical practice of Guangdong Province, China

机译：中国广东省临床实践中PRADER-WILLI综合征和Angelman综合征的遗传测试
- 作者：Chang Liu;Xiangzhong Zhang;Jicheng Wang;Yan Zhang;Anshi Wang;Jian Lu;Yanlin Huang;Shu Liu;Jing Wu;Li Du;Jie Yang;Hongke Ding;Ling Liu;Xin Zhao;Aihua Yin
- 期刊名称：《Molecular cytogenetics》 | 2019年第1期
- Angelman syndromeClinical practiceGenetic testingPraderWilli syndrome;
44.Genomic instability in a chronic lymphocytic leukemia patient with mono-allelic deletion of the DLEU and RB1 genes

机译：慢性淋巴细胞白血病患者的基因组不稳定性，单位等位基因缺失DLEU和RB1基因
- 作者：María Paulina Nava-Rodríguez;Martín Daniel Domínguez-Cruz;Lilia Beatriz Aguilar-López;César Borjas-Gutiérrez;María Teresa Maga?a-Torres;Juan Ramón González-García
- 期刊名称：《Molecular cytogenetics》 | 2019年第1期
- 13q14 deletionDLEU and RB1 gene lossChronic lymphocytic leukemiaGenomic instability;
45.Pathway-based classification of genetic diseases

机译：基于途径的遗传疾病分类
- 作者：Ivan Y. Iourov;Svetlana G. Vorsanova;Yuri B. Yurov
- 期刊名称：《Molecular cytogenetics》 | 2019年第1期
- ChromosomeClassificationDiseaseGenesGenomePathwayPhenotype;
46.Stable transmission of complex chromosomal rearrangements involving chromosome 1q derived from constitutional chromoanagenesis

机译：复杂染色体重排稳定传播涉及染色体1q衍生的染色体染色体染色体
- 作者：Mary A. Gudipati;Elizabeth Waters;Carol Greene;Nidhi Goel;Nicole L. Hoppman;Beth A. Pitel;Matthew R. Webley;Ying Zou
- 期刊名称：《Molecular cytogenetics》 | 2019年第1期
- ChromoanagenesisChromoanasynthesisChromoplexyChromothripsisConstitutional 1q abnormalities;
47.Molecular cytogenetic analysis and genetic counseling: a case report of eight 46,XX males and a literature review

机译：分子细胞遗传学分析和遗传咨询：八分之八，XX男性及文献综述案例报告
- 作者：Fagui Yue;Hongguo Zhang;Qi Xi;Yuting Jiang;Leilei Li;Ruizhi Liu;Ruixue Wang
- 期刊名称：《Molecular cytogenetics》 | 2019年第1期
- 46,XX maleDAX1 mutationSRYSex reversal;
48.Prenatal diagnosis of 4953 pregnant women with indications for genetic amniocentesis in Northeast China

机译：4953孕妇对东北遗传羊膜穿刺症患者的产前诊断
- 作者：Rulin Dai;Yang Yu;Qi Xi;Xiaonan Hu;Haibo Zhu;Ruizhi Liu;Ruixue Wang
- 期刊名称：《Molecular cytogenetics》 | 2019年第1期
- Advanced maternal age (AMA)Fluorescence in situ hybridization (FISH)Noninvasive prenatal testing (NIPT)Prenatal diagnosisUltrasonography;
49.Nonclonal chromosomal alterations and poor survival in cytopenic patients without hematological malignancies

机译：无血液恶性肿瘤患者的非基区染色体改变和患者存活差
- 作者：Osamu Imataki;Hiroyuki Kubo;Akihiro Takeuchi;Makiko Uemura;Norimitsu Kadowaki
- 期刊名称：《Molecular cytogenetics》 | 2019年第1期
- Chromosomal instabilityClonal chromosomal alterationsIdiopathic cytopenia without undetermined significanceNonclonal chromosomal alterations;
50.Jumping translocations of chromosome 1q occurring by a multi-stage process in an acute myeloid leukemia progressed from myelodysplastic syndrome with a TET2 mutation

机译：在急性髓性白血病中，多阶段过程发生染色体1Q的跳跃从骨髓增生综合征与TET2突变进行
- 作者：Ina Lee;Mary A. Gudipati;Elizabeth Waters;Vu H. Duong;Maria R. Baer;Ying Zou
- 期刊名称：《Molecular cytogenetics》 | 2019年第1期
- Acute myeloid leukemiaJumping translocationsMyelodysplastic syndromeTET2;
51.Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases

机译：针对性捕获富集，其次是NGS：染色体非血糖，微缺综合征和单一疾病的单一综合性术的开发和验证
- 作者：George Koumbaris;Achilleas Achilleos;Michalis Nicolaou;Charalambos Loizides;Kyriakos Tsangaras;Elena Kypri;Petros Mina;Carolina Sismani;Voula Velissariou;Georgia Christopoulou;Pantelis Constantoulakis;Emmanouil Manolakos;Ioannis Papoulidis;Danai Stambouli;Marios Ioannides;Philippos Patsalis
- 期刊名称：《Molecular cytogenetics》 | 2019年第1期
- AneuploidiesCellfree DNAMicrodeletionsMonogenic diseasesNIPT;
52.Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature

机译：SNP阵列CRI-du-Chat综合征的产前诊断：十二个案例报告和文学审查
- 作者：Jiasun Su;Huayu Fu;Bobo Xie;Weiliang Lu;Wei Li;Yuan Wei;Qiang Zhang;Shengkai Wei;Qiuli Chen;Yingchi Lu;Tingting Jiang;Jingsi Luo;Zailong Qin
- 期刊名称：《Molecular cytogenetics》 | 2019年第1期
- Criduchat syndromePrenatal diagnosisSNP microarrayUltrasound findings;
53.A prenatal diagnosis and genetics study of five pedigrees in the Chinese population with Xp22.31 microduplication

机译：用XP22.31微量杂本的中国人口五章产前诊断与遗传学研究
- 作者：Jianlong Zhuang;Yuanbai Wang;Shuhong Zeng;Chunling Lv;Yiming Lin;Yuying Jiang
- 期刊名称：《Molecular cytogenetics》 | 2019年第1期
- MicroduplicationPolymorphismsingle nucleotidePrenatal diagnosisXp22.31;
54.The variome concept: focus on CNVariome

机译：Varioome的概念：专注于CNVariome
- 作者：Ivan Y. Iourov;Svetlana G. Vorsanova;Yuri B. Yurov
- 期刊名称：《Molecular cytogenetics》 | 2019年第1期
- Copy number variationsGenome variationsPathwaysSomatic mosaicismVariome;
55.A case of prenatal diagnosis of 18p deletion syndrome following noninvasive prenatal testing

机译：非侵袭性产前检测后18P缺失综合征产前诊断的情况
- 作者：Ganye Zhao;Peng Dai;Shanshan Gao;Xuechao Zhao;Conghui Wang;Lina Liu;Xiangdong Kong
- 期刊名称：《Molecular cytogenetics》 | 2019年第1期
- 18p deletion syndromeCNVseqKaryotypeNIPTPrenatal diagnosis;
56.A novel 14q13.1–21.1 deletion identified by CNV-Seq in a patient with brain-lung-thyroid syndrome, tooth agenesis and immunodeficiency

机译：通过CNV-SEQ在脑 - 肺甲状腺综合征，牙齿发育和免疫缺陷患者中鉴定的新型14Q13.1-21.1缺失
- 作者：Xuyun Hu;Jun Liu;Ruolan Guo;Jun Guo;Zhipeng Zhao;Wei Li;Baoping Xu;Chanjuan Hao
- 期刊名称：《Molecular cytogenetics》 | 2019年第1期
- 14q13 deletionBrainlungthyroid syndromeCNVseqImmunodeficiency;
57.Laundering CNV data for candidate process prioritization in brain disorders

机译：洗涤CNV数据用于脑病患者的候选过程优先级
- 作者：Maria A. Zelenova;Yuri B. Yurov;Svetlana G. Vorsanova;Ivan Y. Iourov
- 期刊名称：《Molecular cytogenetics》 | 2019年第1期
- AutismBioinformaticsBrainCNVIntellectual disabilityPathways;
58.The karyotype of Aegilops geniculata and its use to identify both addition and substitution lines of wheat

机译：Aegilops Geniculata的核型及其用于鉴定小麦的加法和替代线
- 作者：Yingjin Yi;Ke Zheng;Shunzong Ning;Laibin Zhao;Kai Xu;Ming Hao;Lianquan Zhang;Zhongwei Yuan;Dengcai Liu
- 期刊名称：《Molecular cytogenetics》 | 2019年第1期
- Substitution lineAddition lineFluorescence in situ hybridizationSingle nucleotide polymorphism;
59.Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes

机译：异种型y染色体的临床，细胞遗传学和分子结果
- 作者：Yang Yang;Wang Hao
- 期刊名称：《Molecular cytogenetics》 | 2019年第1期
- Isodicentric Y chromosomeFluorescence in situ hybridizationChromosomal microarray analysis,Prenatal diagnosisMosaicism;
60.Microarray expression studies on bone marrow of patients with Shwachman-Diamond syndrome in relation to deletion of the long arm of chromosome 20, other chromosome anomalies or normal karyotype

机译：染色体20，其他染色体异常或正常核型缺失患者骨髓骨髓骨髓骨髓表达研究
- 作者：Abdul Waheed Khan;Antonella Minelli;Annalisa Frattini;Giuseppe Montalbano;Alessia Bogni;Marco Fabbri;Giovanni Porta;Francesco Acquati;Rita Maria Pinto;Elena Bergami;Rossella Mura;Anna Pegoraro;Simone Cesaro;Marco Cipolli;Marco Zecca;Cesare Danesino;Franco Locatelli;Emanuela Maserati;Francesco Pasquali;Roberto Valli
- 期刊名称：《Molecular cytogenetics》 | 2020年第1期
- Clonal chromosome anomalies in bone marrowEIF6 geneExpression analysisRisk of MDS/AMLShwachman-diamond syndromeSomatic genetic rescue;
61.Cytogenetic analysis of 3387 umbilical cord blood in pregnant women at high risk for chromosomal abnormalities

机译：孕妇染色体异常风险高3387脐脐血的细胞遗传学分析
- 作者：Yanmei Sun;Pingping Zhang;Ning Zhang;Limin Rong;Xiaoping Yu;Xianghua Huang;Yali Li
- 期刊名称：《Molecular cytogenetics》 | 2020年第1期
- Chromosome polymorphismCordocentesisCytogeneticsMosaicNIPTPrenatal diagnosis;
62.Chromoanagenesis: a piece of the macroevolution scenario

机译：染色体缩大：一块宏观调查情景
- 作者：Franck Pellestor;Vincent Gatinois
- 期刊名称：《Molecular cytogenetics》 | 2020年第1期
- ChromoanagenesisChromoanasynthesisChromoplexyChromothripsisComplex chromosome rearrangementsMacroevolutionSaltational evolutionSpeciation;
63.Acute myeloid leukemia with inv(16)(p13.1q22) and deletion of the 5’MYH11/3’CBFB gene fusion: a report of two cases and literature review

机译：急性髓性白血病与inv（16）（p13.1q22）和5'myh11 / 3'cbfb基因融合的删除：两份案例和文献综述报告
- 作者：Lili Lv;Jingwei Yu;Zhongxia Qi
- 期刊名称：《Molecular cytogenetics》 | 2020年第1期
- AML with inv(16)Deletion of 5’MYH11/3’CBFBSNP microarray;
64.Non-invasive prenatal test to screen common trisomies in twin pregnancies

机译：非侵入性产前试验，以筛选双胞胎妊娠的常见三粒症
- 作者：Mahtab Motevasselian;Soraya Saleh Gargari;Sarang Younesi;Parichehr Pooransari;Pourandokht Saadati;Masoomeh Mirzamoradi;Shahram Savad;Mohammad Mahdi Taheri Amin;Mohammad-Hossein Modarresi;Maryam Afrakhteh;Soudeh Ghafouri-Fard
- 期刊名称：《Molecular cytogenetics》 | 2020年第1期
- 18Cell free DNANIPTNon-invasive prenatal testingTrisomyTrisomy 13Trisomy 21Twin pregnancy;
65.Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report

机译：胎儿产前诊断胎儿9p23p24.3和14Q11.2Q21.3在胎儿中：案例报告
- 作者：J. B. Wu;J. Sha;J. F. Zhai;Y. Liu;B. Zhang
- 期刊名称：《Molecular cytogenetics》 | 2020年第1期
- Cytogenetic analysisFetusPartial 14q duplicationPartial 9p duplicationSingle nucleotide polymorphism;
66.Retrospective analysis of the clinical features of 172 patients with BCR-ABL1-negative chronic myeloproliferative neoplasms

机译：临床特征的回顾性分析172例BCR-ABL1阴性慢性肌酚肿瘤瘤患者
- 作者：Xiaolan Lin;Huifang Huang;Ping Chen
- 期刊名称：《Molecular cytogenetics》 | 2020年第1期
- CytogeneticsGene mutationJAK2-V617FMPNs;
67.Non-invasive prenatal screening for Emanuel syndrome

机译：Emanuel综合征的非侵入性产前筛查
- 作者：Yuqin Luo;Jie Lin;Yixi Sun;Yeqing Qian;Liya Wang;Min Chen;Minyue Dong;Fan Jin
- 期刊名称：《Molecular cytogenetics》 | 2020年第1期
- Emanuel syndrome (ES)MicroduplicationNIPSSNP ArraySupernumeraryTranslocation;
68.Cell-free DNA screening for sex chromosome aneuploidies by non-invasive prenatal testing in maternal plasma

机译：通过母体血浆中的非侵入性产前试验进行性染色体非染色剂的无细胞DNA筛选
- 作者：Yipeng Wang;Shanshan Li;Wei Wang;Yuan Dong;Meng Zhang;Xin Wang;Chenghong Yin
- 期刊名称：《Molecular cytogenetics》 | 2020年第1期
69.Copy number variations associated with fetal congenital kidney malformations

机译：复制与胎儿先天性肾脏畸形相关的拷贝数变异
- 作者：Meiying Cai;Na Lin;Linjuan Su;Xiaoqing Wu;Xiaorui Xie;Ying Li;Xuemei Chen;Yuan Lin;Hailong Huang;Liangpu Xu
- 期刊名称：《Molecular cytogenetics》 | 2020年第1期
- Chromosomal microarray analysisCopy-number variationsEtiologyRenal hypodysplasia;
70.Prenatal diagnosis of a maternal 7.22-Mb deletion at chromosome 4q32.2q32.3 by SNP array

机译：SNP阵列染色体患者母体7.22mb缺失的产前诊断
- 作者：Pingping Zhang;Yanmei Sun;Ping Huo;Haishen Tian;Jian Gao;Yali Li
- 期刊名称：《Molecular cytogenetics》 | 2020年第1期
- Variant of unknown significanceDeletion of 4q32.2q32.3Chromosomal microarray analysisGenetic counselling;
71.A rare case of acute promyelocytic leukemia with ider(17)(q10)t(15;17)(q22;q21) and favorable outcome

机译：具有Ider（17）（Q10）T（15; 17）（Q22; Q21）和有利的结果
- 作者：Yongming Liu;Junqing Xu;Lina Chu;Limei Yu;Yanhong Zhang;Li Ma;Weihua Wang;Yangyang Zhang;Yimin Xu;Riming Liu
- 期刊名称：《Molecular cytogenetics》 | 2020年第1期
- FISHRT-PCRAPLPML-RARAIder(17)(q10)t(1517)(q22q21);
72.Double Robertsonian translocations in an infertile patient with macrocytic anemia: a case report

机译：宏核贫血的不孕患者中的双罗伯逊易位：案例报告
- 作者：Ramakrishnan Sasi;Jamie Senft;Michelle Spruill;Soham Rej;Peter L. Perrotta
- 期刊名称：《Molecular cytogenetics》 | 2020年第1期
- Double Robertsonian translocationsInfertilityMacrocytic anemiaRibosomopathies;
73.Whole-genome mate-pair sequencing of apparently balanced chromosome rearrangements reveals complex structural variations: two case studies

机译：显然平衡染色体重排的全基因组合伴侣对序列显示复杂的结构变化：两种情况研究
- 作者：Ya-Qi Tan;Yue-Qiu Tan;De-Hua Cheng
- 期刊名称：《Molecular cytogenetics》 | 2020年第1期
- Apparently balanced chromosome rearrangementComplex chromosomal rearrangementCryptic breakpointReproductive riskWhole-genome mate pair sequencing;
74.Dynamic nature of somatic chromosomal mosaicism, genetic-environmental interactions and therapeutic opportunities in disease and aging

机译：体细胞染色体镶嵌的动态性质，遗传 - 环境相互作用和疾病和老化治疗机会
- 作者：Svetlana G. Vorsanova;Yuri B. Yurov;Ivan Y. Iourov
- 期刊名称：《Molecular cytogenetics》 | 2020年第1期
- AneuploidyChromosomeDiseaseEnvironmentOntogenySomatic mosaicismTherapy;
75.Report of trisomy 2q34-qter and monosomy 4q35.2-qter in a child with mild dysmorphic syndrome and karyotype 46,XY,der(4)t(2;4)(q34;q35.2)pat

机译：具有轻度疑带术综合征和核型46，XY，DER（4）T（2; 4）（Q34; Q35.2）PAT
- 作者：Juan Pablo Meza-Espinoza;Enrique Sáinz González;Christian J. N. León-León;Eliakym Arámbula-Meraz;José Alfredo Contreras-Gutiérrez;Noemí García-Magallanes;Jesús Madue?a-Molina;Fred Luque-Ortega;Salvador Cervín-Serrano;Verónica Judith Picos-Cárdenas
- 期刊名称：《Molecular cytogenetics》 | 2020年第1期
- Duplication 2q34-qterDeletion 4q35.2-qterder(4)t(24)(q34q35.2)aCGH;
76.Molecular delineation of small supernumerary marker chromosomes using a single nucleotide polymorphism array

机译：使用单个核苷酸多态性阵列的小超值标记染色体的分子描绘
- 作者：Lili Zhou;Zhaoke Zheng;Lianpeng Wu;Chenyang Xu;Hao Wu;Xueqin Xu;Shaohua Tang
- 期刊名称：《Molecular cytogenetics》 | 2020年第1期
- Small supernumerary marker chromosomeSingle nucleotide polymorphism arrayPrenatal diagnosis;
77.Prenatal genetic analysis and differential pregnancy outcomes of two de novo cases showing mosaic isodicentric Y chromosome

机译：两德诺卵病例的产前遗传分析及差异妊娠结果，显示马赛克异型Y染色体
- 作者：Si He;Hui Xi;Jing Chen;Dan Wang;Jialun Pang;Jiancheng Hu;Qin Liu;Zhengjun Jia;Hua Wang
- 期刊名称：《Molecular cytogenetics》 | 2020年第1期
- Isodicentric YAZF geneSNP array;
78.A chromosome 1q22 microdeletion including ASH1L is associated with intellectual disability in a Chinese family

机译：包括ASH1L的染色体1Q22微缺失与中国家庭的智力残疾有关
- 作者：Hui Xi;Ying Peng;Wanqin Xie;Jialun Pang;Na Ma;Shuting Yang;Jinping Peng;Hua Wang
- 期刊名称：《Molecular cytogenetics》 | 2020年第1期
- Intellectual disability1q22ASH1LMicrodeletionPrenatal diagnosis;
79.Rare partial trisomy and tetrasomy of 15q11-q13 associated with developmental delay and autism spectrum disorder

机译：15Q11-Q13的罕见分三术和四元族与发育延迟和自闭症谱系障碍相关
- 作者：Yinghong Lu;Yi Liang;Sisi Ning;Guosheng Deng;Yuling Xie;Jujie Song;Na Zuo;Chunfeng Feng;Yunrong Qin
- 期刊名称：《Molecular cytogenetics》 | 2020年第1期
- 15q duplication related disordersPartial trisomy and tetrasomy of 15q11-q13Small supernumerary marker chromosomesCopy number variation sequencingDevelopmental delay;
80.Targeted next-generation sequencing identifies the disruption of the SHANK3 and RYR2 genes in a patient carrying a de novo t(1;22)(q43;q13.3) associated with signs of Phelan-McDermid syndrome

机译：靶向的下一代测序鉴定了携带De Novo T（1; 22）（Q43; Q13.3）的患者中的Shank3和Ryr2基因的破坏，与Phelan-McDermid综合征的迹象相关
- 作者：Maria Clara Bonaglia;Sara Bertuzzo;Anna Maria Ciaschini;Giancarlo Discepoli;Lucia Castiglia;Romina Romaniello;Orsetta Zuffardi;Marco Fichera
- 期刊名称：《Molecular cytogenetics》 | 2020年第1期
- Phelan-McDermid syndromeSHANK3RYR2Reciprocal translocationBalanced rearrangementsNext-generation sequencingChromosomal breakpointsHaploinsufficiencyCardiac disorderGenotype-phenotype;
81.Inherited duplication of the pseudoautosomal region Xq28 in a subject with Gilles de la Tourette syndrome and intellectual disability: a case report

机译：在吉尔德拉温室综合征和知识分子综合征中遗传伪变截道区域XQ28的重复XQ28：案例报告
- 作者：Stefania Maccarini;Annamaria Cipani;Valeria Bertini;Jelena Skripac;Alessandro Salvi;Giuseppe Borsani;Eleonora Marchina
- 期刊名称：《Molecular cytogenetics》 | 2020年第1期
- Xq28 trisomyCNVsArray-CGHPAR2Gilles de la Tourette syndromeIntellectual disability;
82.Identification of a novel deletion mutation in DPY19L2 from an infertile patient with globozoospermia: a case report

机译：用GloboOspermia的不育患者鉴定DPY19L2中的新型缺失突变：案例报告
- 作者：You-zhu Li;Rong-feng Wu;Xing-shen Zhu;Wen-sheng Liu;Yuan-yuan Ye;Zhong-xian Lu;Na Li
- 期刊名称：《Molecular cytogenetics》 | 2020年第1期
- Case reportGlobozoospermiaGene mutationsCNV sequencingDPY19L2;
83.Identifying novel genetic alterations in pediatric acute lymphoblastic leukemia based on copy number analysis

机译：基于拷贝数分析鉴定小儿急性淋巴细胞白血病新遗传改变
- 作者：Jéssica Almeida Batista-Gomes;Fernando Augusto Rodrigues Mello;Edivaldo Herculano Corrêa de Oliveira;Michel Platini Caldas de Souza;Alayde Vieira Wanderley;Laudreisa da Costa Pantoja;Ney Pereira Carneiro dos Santos;Bruna Cláudia Meireles Khayat;André Salim Khayat
- 期刊名称：《Molecular cytogenetics》 | 2020年第1期
- ALL (acute lymphoblastic leukemia) childhood leukemiaDMBT1KIAA0125PRDM16Copy number variations;
84.Partial trisomy 4q and monosomy 5p inherited from a maternal translocationt(4;5)(q33; p15) in three adverse pregnancies

机译：从母体易位（4; 5）（Q33; P15）遗传的部分三兆癣4Q和单体5p in inclated三个不利妊娠
- 作者：Jingbo Zhang;Bei Zhang;Tong Liu;Huihui Xie;Jingfang Zhai
- 期刊名称：《Molecular cytogenetics》 | 2020年第1期
- Balanced translocationpartial trisomy 4qmonosomy 5pCri-du-Chat syndrome;
85.Does ICSI for in vitro fertilization cause more aneuploid embryos?

机译：ICSI用于体外施肥会导致更多的动脉倍增胚胎吗？
- 作者：Xiangli Niu;Jiamin Long;Fangqiang Gong;Weihua Wang
- 期刊名称：《Molecular cytogenetics》 | 2020年第1期
- OocytesRegular IVFBlastocystsICSIAneuploidy;
86.Prenatal diagnosis of rearrangements in the fetal 22q11.2 region

机译：胎儿22Q11.2区域重排的产前诊断
- 作者：Suping Li;Yuxia Jin;Jing Yang;Li Yang;Ping Tang;Chiyan Zhou;Liping Wu;Jinhua Dong;Jie Chen;Huaxiang Shen
- 期刊名称：《Molecular cytogenetics》 | 2020年第1期
- 22q11.2 deletion syndrome22q11.2 duplication syndromePrenatal diagnosisSingle-nucleotide polymorphism-array analysisChromosome analysis;
87.An acquired stable variant of a dicentric dic(9;20) and complex karyotype in a Syrian childhood B-acute lymphoblastic leukemia case

机译：在叙利亚儿童B型急性淋巴细胞白血病壳体中获取的Dicentric DIC（9; 20）和复杂核型的稳定变体
- 作者：Abdulsamad Wafa;Rami A. Jarjour;Abdulmunim Aljapawe;Suher ALmedania;Thomas Liehr;Joana B. Melo;Isabel M. Carreira;Moneeb A. K. Othman;Walid Al-Achkar
- 期刊名称：《Molecular cytogenetics》 | 2020年第1期
- Acute lymphoblastic leukemiaComplex karyotypeDicentric dic(920)Array-based multicolor banding (aMCB)Array comparative genomic hybridization (aCGH)Prognostic factors;
88.Genotype-phenotype correlation in 75 patients with small supernumerary marker chromosomes

机译：75例小超值标记染色体患者的基因型 - 表型相关性
- 作者：Tingting Li;Haiquan Sang;Guoming Chu;Yuanyuan Zhang;Manlong Qi;Xiaoliang Liu;Wanting Cui;Yanyan Zhao
- 期刊名称：《Molecular cytogenetics》 | 2020年第1期
- Genetic counselingNext-generation sequencingPrenatal diagnosisSmall supernumerary marker chromosomes;
89.13q deletion syndrome resulting from balanced chromosomal rearrangement in father: the significance of parental karyotyping

机译：13克删除综合征，由父亲的平衡染色体重排成为患者：父母核型分析的重要性
- 作者：Sabine Dittner-Moormann;Madlen Reschke;Eva Biewald;Alma Kuechler;Barbara Klein;Beate Timmermann;Dietmar Lohmann;Petra Ketteler;Deniz Kanber
- 期刊名称：《Molecular cytogenetics》 | 2020年第1期
- 13q deletionBalanced translocationComplex chromosomal rearrangementRetinoblastoma;
90.Mapping epigenetic modifications on chicken lampbrush chromosomes

机译：在鸡灯刷染色体上映射表观遗传修饰
- 作者：Tatiana Kulikova;Anna Surkova;Anna Zlotina;Alla Krasikova
- 期刊名称：《Molecular cytogenetics》 | 2020年第1期
- Chromatin domainChromomereCytological chromomere-loop mapChickenEpigeneticmodificationsGene mappingHistone modificationsKaryotypeLampbrush chromosomesMethylated cytosine,Tandem repeats;
91.Novel FANCA mutation in the first fully-diagnosed patient with Fanconi anemia in Polish population – case report

机译：在波兰人口中第一个全诊断患者的新型FANCA突变 - 案例报告
- 作者：Anna Repczynska;Agata Pastorczak;Katarzyna Babol-Pokora;Jolanta Skalska-Sadowska;Malgorzata Drozniewska;Wojciech Mlynarski;Olga Haus
- 期刊名称：《Molecular cytogenetics》 | 2020年第1期
- Fanconi anemiaPancytopeniaChromosomal fragilityFANC genes;
92.Ring chromosome 18 in combination with 18q12.1 (DTNA) interstitial microdeletion in a patient with multiple congenital defects

机译：环染色体18与18 Q12.1（DTNA）间质微缺细胞组合，患有多个先天性缺陷的患者
- 作者：Anna Zlotina;Tatiana Nikulina;Natalia Yany;Olga Moiseeva;Tatiana Pervunina;Eugeny Grekhov;Anna Kostareva
- 期刊名称：《Molecular cytogenetics》 | 2016年第1期
- Array-based CGHDTNA deletionRing(18)Subaortic stenosisα-dystrobrevin;
93.Mitochondrial donation by stem cells: potential for novel therapeutics

机译：干细胞的线粒体捐赠：新型治疗剂的潜力
- 作者：Anurag Agrawal
- 期刊名称：《Molecular cytogenetics》 | 2014年第1期
- AsthmaMesenchymal Stem CellLung InjuryTherapeutic EfficacyAcute Lung Injury;
94.A rare coincidence of different types of driver mutations among uterine leiomyomas (UL)

机译：子宫平滑肌中不同类型的司机突变的罕见巧合（UL）
- 作者：Carsten Holzmann;Dominique Nadine Markowski;Sabine Bartnitzke;Dirk Koczan;Burkhard Maria Helmke;J?rn Bullerdiek
- 期刊名称：《Molecular cytogenetics》 | 2015年第1期
- Genetic typesHMGA2MED12MED12LUterine leiomyoma;
95.A novel donor site mutation in LMNA gene leading to severe form of Dilated Cardiomyopathy in a proband of a family from Bihar, India

机译：LMNA基因的一种新型供体突变突变，导致来自Bihar，印度的一个家庭中的膨胀性心肌病的严重形式
- 作者：Soumi Das;Amitabh Biswas;Mitali Kapoor;Sandeep Seth;Balram Bhargava;Vadlamudi Rao
- 期刊名称：《Molecular cytogenetics》 | 2014年第1期
- Dilate CardiomyopathySplice Site MutationIdiopathic Dilate CardiomyopathyDonor Splice SiteMYH7 Gene;
96.Identification of mutations in bone morphogenetic protein 2, 4 and 7 in congenital heart disease patients from Indian population

机译：印度人口先天性心脏病患者骨形态发生蛋白2,4和7中突变的鉴定
- 作者：Ritu Bhardwaj;Damyanti Agrawal;Ashok Kumar;Bhagyalaxmi Mohapatra
- 期刊名称：《Molecular cytogenetics》 | 2014年第1期
- Congenital Heart DiseaseBone Morphogenetic ProteinPatent Ductus ArteriosusMissense VariantCardiac Development;
97.An intronic rare mutation in Presenilin-1 (PSEN-1) gene may be involved in the developement of Alzheimer’s disease

机译：Presenilin-1（pseN-1）基因中的内含内罕见突变可参与阿尔茨海默病的开发
- 作者：Pranami Bhaumik;Priyanka Ghosh;Subrata K Dey
- 期刊名称：《Molecular cytogenetics》 | 2014年第1期
- Amyloid Precursor ProteinSilico AnalysisLarge Population SizeRare MutationFlank Intron;
98.Novel microduplication of CHL1 gene in a patient with autism spectrum disorder: a case report and a brief literature review

机译：自闭症谱系疾病患者CHL1基因的新微量杂化：案例报告及简短的文献综述
- 作者：Chunyang Li;Chunxue Liu;Bingrui Zhou;Chunchun Hu;Xiu Xu
- 期刊名称：《Molecular cytogenetics》 | 2016年第1期
- 3p26.3 microduplicationAutism spectrum disorderCHL1 geneDevelopmental delay;
99.Analysis of chromosome 22q11 copy number variations by multiplex ligation-dependent probe amplification for prenatal diagnosis of congenital heart defect

机译：多重结扎依赖性探针扩增染色体22Q11拷贝数变化对先天性心脏缺陷的产前诊断
- 作者：Jingjing Zhang;Dingyuan Ma;Yan Wang;Li Cao;Yun Wu;Fengchang Qiao;An Liu;Li Li;Ying Lin;Gang Liu;Cuiyun Liu;Ping Hu;Zhengfeng Xu
- 期刊名称：《Molecular cytogenetics》 | 2015年第1期
- 22q11 deletion syndromeCongenital heart defectsMLPAPrenatal diagnosis;
100.Enlarged NT (≥3.5?mm) in the first trimester – not all chromosome aberrations can be detected by NIPT

机译：在前三个月的扩大NT（≥3.5Ωmm） - 并非所有染色体像差都可以通过nipt检测
- 作者：Malgorzata I. Srebniak;Merel C. de Wit;Karin E. M. Diderich;Lutgarde C. P. Govaerts;Marieke Joosten;Maarten F. C. M. Knapen;Marnix J. Bos;Gerda A. G. Looye-Bruinsma;Mieke Koningen;Attie T. J. I. Go;Robert Jan H. Galjaard;Diane Van Opstal
- 期刊名称：《Molecular cytogenetics》 | 2016年第1期
- ArrayMicrodeletionNIPTNTNuchal translucencyPrenatal diagnosisSubmicroscopic chromosomal abnormalities;

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