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  1. The epigenetic regulation of genome is crucial for implementation of the genetic program of ontogenesis through establishing and maintaining differential gene expression. Thus mapping of various epigenetic mod...

    Authors: Tatiana Kulikova, Anna Surkova, Anna Zlotina and Alla Krasikova

    Citation: Molecular Cytogenetics 2020 13:32

    Content type: Research

    Published on:

  2. Retinoblastoma is a malignancy of the eye in children characterized by biallelic inactivation of the retinoblastoma 1 gene (RB1), located at chromosome 13q14.2. Children with interstitial chromosome 13q deletions...

    Authors: Sabine Dittner-Moormann, Madlen Reschke, Eva Biewald, Alma Kuechler, Barbara Klein, Beate Timmermann, Dietmar Lohmann, Petra Ketteler and Deniz Kanber

    Citation: Molecular Cytogenetics 2020 13:31

    Content type: Case Report

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  3. Small supernumerary marker chromosomes (sSMCs) are rare structural abnormalities in the population; however, they are frequently found in children or fetuses with hypoevolutism and infertile adults. sSMCs are ...

    Authors: Tingting Li, Haiquan Sang, Guoming Chu, Yuanyuan Zhang, Manlong Qi, Xiaoliang Liu, Wanting Cui and Yanyan Zhao

    Citation: Molecular Cytogenetics 2020 13:30

    Content type: Research

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  4. About 25 years ago, the acquired chromosome abnormality dicentric dic(9;20)(p11 ~ 13;q11) was seen described as a non-random aberration in B-cell precursor acute lymphoblastic leukemia (BCP-ALL). Yet, about 20...

    Authors: Abdulsamad Wafa, Rami A. Jarjour, Abdulmunim Aljapawe, Suher ALmedania, Thomas Liehr, Joana B. Melo, Isabel M. Carreira, Moneeb A. K. Othman and Walid Al-Achkar

    Citation: Molecular Cytogenetics 2020 13:29

    Content type: Case Report

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  5. 22q11.2 deletion syndrome (22q11.2DS) and 22q11.2 duplication syndrome (22q11.2DupS) are the most common copy number variations in humans. The clinical phenotypes of these two syndromes are variable, and there...

    Authors: Suping Li, Yuxia Jin, Jing Yang, Li Yang, Ping Tang, Chiyan Zhou, Liping Wu, Jinhua Dong, Jie Chen and Huaxiang Shen

    Citation: Molecular Cytogenetics 2020 13:28

    Content type: Research

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  6. High proportion of human embryos produced by in vitro fertilization (IVF) is aneuploidy. Many factors are related to the prevalence of embryonic aneuploidies, such as maternal age, sperm quality, and in vitro ...

    Authors: Xiangli Niu, Jiamin Long, Fangqiang Gong and Weihua Wang

    Citation: Molecular Cytogenetics 2020 13:27

    Content type: Case Report

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  7. Carriers of balanced reciprocal chromosomal translocations are at known reproductive risk for offspring with unbalanced genotypes and resultantly abnormal phenotypes. Once fertilization of a balanced transloca...

    Authors: Jingbo Zhang, Bei Zhang, Tong Liu, Huihui Xie and Jingfang Zhai

    Citation: Molecular Cytogenetics 2020 13:26

    Content type: Case Report

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  8. Copy number variations (CNVs) analysis may reveal molecular biomarkers and provide information on the pathogenesis of acute lymphoblastic leukemia (ALL). We investigated the gene copy number in childhood ALL b...

    Authors: Jéssica Almeida Batista-Gomes, Fernando Augusto Rodrigues Mello Jr, 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 and André Salim Khayat

    Citation: Molecular Cytogenetics 2020 13:25

    Content type: Short report

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  9. Male infertility is an increasing medical concern worldwide. In most cases, genetic factors are considered as the main cause of the disease. Globozoospermia (MIM102530) (also known as round-headed sperm) is a ...

    Authors: You-zhu Li, Rong-feng Wu, Xing-shen Zhu, Wen-sheng Liu, Yuan-yuan Ye, Zhong-xian Lu and Na Li

    Citation: Molecular Cytogenetics 2020 13:24

    Content type: Case Report

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  10. Tourette syndrome (TS) is a complex neurodevelopmental disorder (NDD) characterized by multiple chronic involuntary motor and vocal tics with onset during childhood or adolescence. Most TS patients present wit...

    Authors: Stefania Maccarini, Annamaria Cipani, Valeria Bertini, Jelena Skripac, Alessandro Salvi, Giuseppe Borsani and Eleonora Marchina

    Citation: Molecular Cytogenetics 2020 13:23

    Content type: Case Report

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  11. It has been known for more than 30 years that balanced translocations, especially if de novo, can associate with congenital malformations and / or neurodevelopmental disorders, following the disruption of a di...

    Authors: Maria Clara Bonaglia, Sara Bertuzzo, Anna Maria Ciaschini, Giancarlo Discepoli, Lucia Castiglia, Romina Romaniello, Orsetta Zuffardi and Marco Fichera

    Citation: Molecular Cytogenetics 2020 13:22

    Content type: Case Report

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  12. Small supernumerary marker chromosomes (sSMCs), are additional abnormal chromosomes, which can’t be detected accurately by banding cytogenetic analysis. Abnormal phenotypes were observed in about 30% of SMC ca...

    Authors: Yinghong Lu, Yi Liang, Sisi Ning, Guosheng Deng, Yuling Xie, Jujie Song, Na Zuo, Chunfeng Feng and Yunrong Qin

    Citation: Molecular Cytogenetics 2020 13:21

    Content type: Case Report

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  13. Copy number variants (CNVs) associated with developmental delay and intellectual disability (DD/ID) continue to be identified in patients. This article reports identification of a chromosome 1q22 microdeletion...

    Authors: Hui Xi, Ying Peng, Wanqin Xie, Jialun Pang, Na Ma, Shuting Yang, Jinping Peng and Hua Wang

    Citation: Molecular Cytogenetics 2020 13:20

    Content type: Case Report

    Published on:

  14. Defining the phenotype-genotype correlation of small supernumerary marker chromosomes (sSMCs) remains a challenge in prenatal diagnosis. We karyotyped 20,481 amniotic fluid samples from pregnant women and expl...

    Authors: Lili Zhou, Zhaoke Zheng, Lianpeng Wu, Chenyang Xu, Hao Wu, Xueqin Xu and Shaohua Tang

    Citation: Molecular Cytogenetics 2020 13:19

    Content type: Research

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  15. Small subchromosomal deletions and duplications caused by copy number variants (CNVs) can now be detected with noninvasive prenatal testing (NIPT) technology. However, the clinical utility and validity of this...

    Authors: Yiming Qi, Jiexia Yang, Yaping Hou, Rong Hu, Dongmei Wang, Haishan Peng and Aihua Yin

    Citation: Molecular Cytogenetics 2020 13:18

    Content type: Case Report

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  16. Concomitant trisomy 2q3 and monosomy 4q3 have been rarely reported. Pure trisomy 2q3 has been associated with microcephaly, hypertelorism, low-set ears, micrognathia, visceral abnormalities, and growth retarda...

    Authors: Juan Pablo Meza-Espinoza, Enrique Sáinz González, Christian J. N. León-León, Eliakym Arámbula-Meraz, José Alfredo Contreras-Gutiérrez, Noemí García-Magallanes, Jesús Madueña-Molina, Fred Luque-Ortega, Salvador Cervín-Serrano and Verónica Judith Picos-Cárdenas

    Citation: Molecular Cytogenetics 2020 13:17

    Content type: Case Report

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  17. Somatic chromosomal mosaicism is the presence of cell populations differing with respect to the chromosome complements (e.g. normal and abnormal) in an individual. Chromosomal mosaicism is associated with a wi...

    Authors: Svetlana G. Vorsanova, Yuri B. Yurov and Ivan Y. Iourov

    Citation: Molecular Cytogenetics 2020 13:16

    Content type: Hypothesis

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  18. Apparently balanced chromosome rearrangements (ABCRs) in non-affected individuals are well-known to possess high reproductive risks such as infertility, abnormal offspring, and pregnancy loss. However, caution...

    Authors: Ya-Qi Tan, Yue-Qiu Tan and De-Hua Cheng

    Citation: Molecular Cytogenetics 2020 13:15

    Content type: Case Report

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  19. Constitutional heterologous double Robertsonian translocations (DRT) between chromosomes 13/14 and chromosomes 14/15 with 44 chromosomes are extremely rare. In this case report, we present the karyotype analys...

    Authors: Ramakrishnan Sasi, Jamie Senft, Michelle Spruill, Soham Rej and Peter L. Perrotta

    Citation: Molecular Cytogenetics 2020 13:14

    Content type: Case Report

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  20. Chromosomal rearrangements in addition to t(15;17) have been reported in 25-40% of APL patients, with a large predominance of trisomy 8. Other abnormalities are far less frequent, particularly as ider(17), and...

    Authors: Yongming Liu, Junqing Xu, Lina Chu, Limei Yu, Yanhong Zhang, Li Ma, Weihua Wang, Yangyang Zhang, Yimin Xu and Riming Liu

    Citation: Molecular Cytogenetics 2020 13:13

    Content type: Case Report

    Published on:

  21. Although Chromosomal microarray analysis (CMA) is a powerful diagnostic technology for detecting chromosomal copy number variants (CNVs), it detects numerous variants of unknown significance (VUSs), which pose...

    Authors: Pingping Zhang, Yanmei Sun, Ping Huo, Haishen Tian, Jian Gao and Yali Li

    Citation: Molecular Cytogenetics 2020 13:12

    Content type: Case Report

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  22. Congenital anomalies of the kidney and urinary tract (CAKUT) constitute 20–30% of all congenital malformations. Within the CAKUT phenotypic spectrum, renal hypodysplasia (RHD) is particularly severe. This stud...

    Authors: Meiying Cai, Na Lin, Linjuan Su, Xiaoqing Wu, Xiaorui Xie, Ying Li, Xuemei Chen, Yuan Lin, Hailong Huang and Liangpu Xu

    Citation: Molecular Cytogenetics 2020 13:11

    Content type: Research

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  23. Non-invasive prenatal testing (NIPT) has been confirmed as the most accurate screening test for trisomies 21, 18, and 13. However, reports on NIPT performance in sex chromosome aneuploidies (SCA) based on real...

    Authors: Yipeng Wang, Shanshan Li, Wei Wang, Yuan Dong, Meng Zhang, Xin Wang and Chenghong Yin

    Citation: Molecular Cytogenetics 2020 13:10

    Content type: Research

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  24. The aim of this study was to validate the results of two Emanuel syndromes detected by non-invasive prenatal screening (NIPS) screening using invasive methods, providing clinical performance of NIPS on chromos...

    Authors: Yuqin Luo, Jie Lin, Yixi Sun, Yeqing Qian, Liya Wang, Min Chen, Minyue Dong and Fan Jin

    Citation: Molecular Cytogenetics 2020 13:9

    Content type: Research

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  25. To explore the clinical features of the patients with BCR-ABL1-negative chronic myeloproliferative neoplasms (MPNs) in our hospital and to reveal the unique features of BCR-ABL1-negative MPNs patients in our cent...

    Authors: Xiaolan Lin, Huifang Huang and Ping Chen

    Citation: Molecular Cytogenetics 2020 13:8

    Content type: Research

    Published on:

  26. Fetal cells collected from the amniotic fluid of two pregnant women indicated sex chromosome abnormalities. Therefore, we performed G-banded chromosome karyotype analysis, single nucleotide polymorphism array ...

    Authors: Si He, Hui Xi, Jing Chen, Dan Wang, Jialun Pang, Jiancheng Hu, Qin Liu, Zhengjun Jia and Hua Wang

    Citation: Molecular Cytogenetics 2020 13:7

    Content type: Case Report

    Published on:

  28. Recent years have witnessed a shift from invasive methods of prenatal screening to non-invasive strategies. Accordingly, non-invasive prenatal testing (NIPT) using cell-free fetal DNA in maternal plasma has ga...

    Authors: Mahtab Motevasselian, Soraya Saleh Gargari, Sarang Younesi, Parichehr Pooransari, Pourandokht Saadati, Masoomeh Mirzamoradi, Shahram Savad, Mohammad Mahdi Taheri Amin, Mohammad-Hossein Modarresi, Maryam Afrakhteh and Soudeh Ghafouri-Fard

    Citation: Molecular Cytogenetics 2020 13:5

    Content type: Research

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  29. Abnormalities of chromosome 16 are found in about 5–8% of acute myeloid leukemia (AML). The AML with inv(16)(p13.1q22) or t (16;16)(p13.1;q22) is associated with a high rate of complete remission (CR) and favo...

    Authors: Lili Lv, Jingwei Yu and Zhongxia Qi

    Citation: Molecular Cytogenetics 2020 13:4

    Content type: Case Report

    Published on:

  30. Over the last decade, new types of massive and complex chromosomal rearrangements based on the chaotic shattering and restructuring of chromosomes have been identified in cancer cells as well as in patients wi...

    Authors: Franck Pellestor and Vincent Gatinois

    Citation: Molecular Cytogenetics 2020 13:3

    Content type: Review

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  31. Cordocentesis in our practice is most commonly indicated for rapid karyotyping in the second or third trimester and is regarded as the gold standard for foetal chromosomal aberration diagnosis in pregnancies a...

    Authors: Yanmei Sun, Pingping Zhang, Ning Zhang, Limin Rong, Xiaoping Yu, Xianghua Huang and Yali Li

    Citation: Molecular Cytogenetics 2020 13:2

    Content type: Research

    Published on:

  32. Clonal chromosome changes are often found in the bone marrow (BM) of patients with Shwachman-Diamond syndrome (SDS). The most frequent ones include an isochromosome of the long arm of chromosome 7, i (7)(q10),...

    Authors: 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…

    Citation: Molecular Cytogenetics 2020 13:1

    Content type: Research

    Published on:

  35. Chromosome 18p deletion syndrome is a disease caused by the complete or partial deletion of the short arm of chromosome 18, there were few cases reported about the prenatal diagnosis of 18p deletion syndrome. ...

    Authors: Ganye Zhao, Peng Dai, Shanshan Gao, Xuechao Zhao, Conghui Wang, Lina Liu and Xiangdong Kong

    Citation: Molecular Cytogenetics 2019 12:53

    Content type: Case Report

    Published on:

  36. Variome may be used for designating complex system of interplay between genomic variations specific for an individual or a disease. Despite the recognized complexity of genomic basis for phenotypic traits and ...

    Authors: Ivan Y. Iourov, Svetlana G. Vorsanova and Yuri B. Yurov

    Citation: Molecular Cytogenetics 2019 12:52

    Content type: Hypothesis

    Published on:

  37. Chromosome 14q11-q22 deletion syndrome (OMIM 613457) is a rare genomic disorder. The phenotype heterogeneity depends on the deletion size, breakpoints and genes deleted. Critical genes like FOXG1, NKX2–1, PAX9 we...

    Authors: Xuyun Hu, Jun Liu, Ruolan Guo, Jun Guo, Zhipeng Zhao, Wei Li, Baoping Xu and Chanjuan Hao

    Citation: Molecular Cytogenetics 2019 12:51

    Content type: Case Report

    Published on:

  38. Copy number variations (CNVs) can contribute to human phenotype, phenotypic diversity and disease susceptibility, while others may benign. In the current study, an attempt to investigate the pathogenicity of C...

    Authors: Jianlong Zhuang, Yuanbai Wang, Shuhong Zeng, Chunling Lv, Yiming Lin and Yuying Jiang

    Citation: Molecular Cytogenetics 2019 12:50

    Content type: Research

    Published on:

  39. Cri-du-chat syndrome (CdCS; OMIM#123450) is a classic contiguous gene syndrome caused by chromosome 5p terminal deletion (5p-), which characterized by a high-pitched cat-like cry, developmental delay, severe p...

    Authors: Jiasun Su, Huayu Fu, Bobo Xie, Weiliang Lu, Wei Li, Yuan Wei, Qiang Zhang, Shengkai Wei, Qiuli Chen, Yingchi Lu, Tingting Jiang, Jingsi Luo and Zailong Qin

    Citation: Molecular Cytogenetics 2019 12:49

    Content type: Case Report

    Published on:

  40. Non-invasive prenatal testing (NIPT) has been widely adopted for the detection of fetal aneuploidies and microdeletion syndromes, nevertheless, limited clinical utilization has been reported for the non-invasi...

    Authors: 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 and Philippos Patsalis

    Citation: Molecular Cytogenetics 2019 12:48

    Content type: Research

    Published on:

  41. Jumping translocations (JTs) are rare chromosome rearrangements characterized by re-localization of one donor chromosome to multiple recipient chromosomes. Here, we describe an acute myeloid leukemia (AML) tha...

    Authors: Ina Lee, Mary A. Gudipati, Elizabeth Waters, Vu H. Duong, Maria R. Baer and Ying Zou

    Citation: Molecular Cytogenetics 2019 12:47

    Content type: Case Report

    Published on:

  42. Clonal chromosomal alterations (CCAs) reflect recurrent genetic changes derived from a single evolving clone, whereas nonclonal chromosomal alterations (NCCAs) comprise a single or nonrecurrent chromosomal abn...

    Authors: Osamu Imataki, Hiroyuki Kubo, Akihiro Takeuchi, Makiko Uemura and Norimitsu Kadowaki

    Citation: Molecular Cytogenetics 2019 12:46

    Content type: Research

    Published on:

  43. Several different technologies are used for prenatal screening procedures and genetic diagnostic technologies. We aimed to investigate the rates of chromosomal abnormalities in cases with different abnormal pr...

    Authors: Rulin Dai, Yang Yu, Qi Xi, Xiaonan Hu, Haibo Zhu, Ruizhi Liu and Ruixue Wang

    Citation: Molecular Cytogenetics 2019 12:45

    Content type: Research

    Published on:

  44. 46,XX male syndrome is a rare disorder that usually causes infertility. This study was established to identify the genetic causes of this condition in a series of 46,XX males through the combined application o...

    Authors: Fagui Yue, Hongguo Zhang, Qi Xi, Yuting Jiang, Leilei Li, Ruizhi Liu and Ruixue Wang

    Citation: Molecular Cytogenetics 2019 12:44

    Content type: Case Report

    Published on:

  45. Chromoanagenesis events encompassing chromoanasynthesis, chromoplexy, and chromothripsis are described in cancers and can result in highly complex chromosomal rearrangements derived from ‘all-at-once’ catastro...

    Authors: Mary A. Gudipati, Elizabeth Waters, Carol Greene, Nidhi Goel, Nicole L. Hoppman, Beth A. Pitel, Matthew R. Webley and Ying Zou

    Citation: Molecular Cytogenetics 2019 12:43

    Content type: Case Report

    Published on:

  46. Childhood Acute Leukemia (AL) is characterized by recurrent genetic aberrations in 60% of AML cases and 90% of ALL cases. Insufficient data exists of rare cytogenetic abnormalities in AL. Therefore, we tested ...

    Authors: 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 and Eman Al Mussaed

    Citation: Molecular Cytogenetics 2019 12:42

    Content type: Research

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  47. In prenatal diagnosis, CMA has begun to emerge as a favorable alternative to karyotype analysis, but it could not identify balanced translocations, triploidies, inversion and heteromorphisms. Therefore, conven...

    Authors: Jian Jiang Zhu, Hong Qi, Li Rong Cai, Xiao Hui Wen, Wen Zeng, Guo Dong Tang, Yao Luo, Ran Meng, Xue Qun Mao and Shao Qin Zhang

    Citation: Molecular Cytogenetics 2019 12:41

    Content type: Research

    Published on:

  48. Fetal chromosomal abnormalities was the most frequent cause of miscarriage, and the traditional testing method G-banded karyotyping has limitations. Then high-throughput ligation-dependent probe amplification ...

    Authors: Jun Mao, Huiling Wang, Haibo Li, Xiaoyan Song, Ting Wang, Jingjing Xiang and Hong Li

    Citation: Molecular Cytogenetics 2019 12:40

    Content type: Research

    Published on:

  49. Pallister-Killian syndrome (PKS) (OMIM:#601803) is a rare sporadic genetic disorder characterized by multi-malformations which is caused by the presence of the extra isochromosome 12p. PKS is featured by the t...

    Authors: Ting Wang, Congmian Ren, Dan Chen, Jian Lu, Li Guo, Laiping Zheng, Yuan Liu and Hanbiao Chen

    Citation: Molecular Cytogenetics 2019 12:39

    Content type: Research

    Published on:

  50. Pregnancy complications could lead to maternal and fetal morbidity and mortality. Early diagnosing and managing complications have been associated with good outcomes. The placenta was an important organ for de...

    Authors: Guangping Wu, Rong Li, Chao Tong, Miaonan He, Zhiwei Qi, Huijuan Chen, Tao Deng, Hailiang Liu and Hongbo Qi

    Citation: Molecular Cytogenetics 2019 12:38

    Content type: Research

    Published on:

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Molecular Cytogenetics

ISSN: 1755-8166