Skip to main content


Page 1 of 22

  1. Balanced chromosome aberrations are reported in about 1:30 couples with recurrent pregnancy loss (RPL). Karyotyping of both parents is necessary to identify these aberrations. Genome-wide non-invasive prenatal...

    Authors: Laura J. C. M. van Zutven, Jona Mijalkovic, Monique van Veghel-Plandsoen, Margaret Goense, Marike Polak, Maarten F. C. M. Knapen, Sabina de Weerd, Marieke Joosten, Karin E. M. Diderich, Lies H. Hoefsloot, Diane Van Opstal and Malgorzata I. Srebniak
    Citation: Molecular Cytogenetics 2023 16:26
  2. Many clinical studies based on spontaneous pregnancies (SPs) have demonstrated the superiority of non-invasive prenatal testing (NIPT), and the question of whether this technology is suitable for offspring con...

    Authors: Rong Wei, Jingran Li, Yuanyuan Xia, Chaohong Wang, Xinran Lu, Yuqin Fang and Jiansheng Zhu
    Citation: Molecular Cytogenetics 2023 16:25
  3. Cytogenetic analysis continues to have an important role in the management of acute myeloid leukemia (AML) because it is essential for prognostication. It is also necessary to diagnose specific categories of A...

    Authors: Vivi M. Srivastava, Sukesh Chandran Nair, Marimuthu Sappani, Marie-Therese Manipadam, Uday P. Kulkarni, Anup J. Devasia, N. A. Fouzia, Anu Korula, Kavitha M. Lakshmi, Aby Abraham and Alok Srivastava
    Citation: Molecular Cytogenetics 2023 16:24
  4. Wiedemann–Steiner syndrome (WDSTS) is a rare autosomal dominant disorder caused by mutations in the KMT2A gene and is usually characterized by hairy elbows, short stature, developmental delay, intellectual disabi...

    Authors: Sifeng Wang, Shuyuan Yan, Jingjun Xiao, Ying Chen, Anji Chen, Aimin Deng, Tuanmei Wang, Jun He and Xiangwen Peng
    Citation: Molecular Cytogenetics 2023 16:21
  5. Uniparental disomy (UPD) is when all or part of the homologous chromosomes are inherited from only one of the two parents. Currently, UPD has been reported to occur for almost all chromosomes. In this study, w...

    Authors: Xuemei Tan, Bailing Liu, Tizhen Yan, Xiaobao Wei, Yanfeng Qin, Dingyuan Zeng and Dejian Yuan
    Citation: Molecular Cytogenetics 2023 16:20
  6. High expression of the Cytokine Receptor-Like Factor 2 (CRLF2) gene has been observed in patients with acute lymphoblastic leukemia BCR-ABL1-like subtype. Currently, there is no commercial system available for th...

    Authors: Rosa María González-Arreola, Adriana García-Romero, María Teresa Magaña-Torres and Juan Ramón González-García
    Citation: Molecular Cytogenetics 2023 16:19
  7. Isolated terminal 4q35.2 microdeletion is an extremely rare copy number variant affecting people all over the world. To date, researchers still have controversial opinions and results on its pathogenicity. Her...

    Authors: Jianlong Zhuang, Shufen Liu, Xinying Chen, Yuying Jiang and Chunnuan Chen
    Citation: Molecular Cytogenetics 2023 16:18
  8. A precise diagnosis of central nervous system involvement in acute lymphoblastic leukemia (ALL) requires comprehensive knowledge of morphological analysis, with a focus on the quantity and quality of cells bei...

    Authors: Knarik Karapetyan, Mane Gizhlaryan, Olga Kalinovskaia, Anna Hovhannisyan, Gohar Tadevosyan, Lilit Matinyan, Gevorg Tamamyan and Narine Ghazaryan
    Citation: Molecular Cytogenetics 2023 16:17
  9. Non-invasive prenatal testing (NIPT) using cell-free DNA has been widely used for prenatal screening to detect the common fetal aneuploidies (such as trisomy 21, 18, and 13). NIPT has been shown to be highly s...

    Authors: Qinfei Zhao, Jing Chen, Ling Ren, Huijuan Zhang, Dedong Liu, Xuxiang Xi, Xiangsheng Wu, Chunyun Fang, Ping Ye, Shaoying Zeng and Tianyu Zhong
    Citation: Molecular Cytogenetics 2023 16:16
  10. Copy number variants (CNVs) have been identified as common genomic variants that play a significant role in inter-individual variability. Conversely, rare recurrent CNVs have been found to be causal for many d...

    Authors: Nikhil Shri Sahajpal, David H. F. Jeffrey, Barbara R. DuPont and Benjamin Hilton
    Citation: Molecular Cytogenetics 2023 16:15
  11. BCR::ABL1-like acute lymphoblastic leukaemia (BCR::ABL1-like ALL) is characterized by inferior outcomes. Current efforts concentrate on the identification of molecular targets to improve the therapy results. The ...

    Authors: Anna Płotka, Anna Przybyłowicz-Chalecka, Maria Korolczuk, Zuzanna Kanduła, Błażej Ratajczak, Jolanta Kiernicka-Parulska, Anna Mierzwa, Katarzyna Godziewska, Małgorzata Jarmuż-Szymczak, Lidia Gil and Krzysztof Lewandowski
    Citation: Molecular Cytogenetics 2023 16:14
  12. With the application of chromosome microarray, next-generation sequencing and other highly sensitive genetic techniques in disease diagnosis, the detection of mosaicism has become increasingly prevalent. This ...

    Authors: Lili Zhou, Huanzheng Li, Chenyang Xu, Xueqin Xu, Zhaoke Zheng and Shaohua Tang
    Citation: Molecular Cytogenetics 2023 16:13
  13. Anqing six-end-white pig is a native breed in Anhui Province. The pigs have the disadvantages of a slow growth rate, low proportion of lean meat, and thick back fat, but feature the advantages of strong stress...

    Authors: Rong Qian, Fei Xie, Wei Zhang, JuanJuan Kong, Xueli Zhou, Chonglong Wang and Xiaojin Li
    Citation: Molecular Cytogenetics 2023 16:12
  14. Copy-number variants (CNVs) drive many neurodevelopmental-related disorders. Although many neurodevelopmental-related CNVs can give rise to widespread phenotypes, it is necessary to identify the major genes co...

    Authors: Liyu Zhang, Xiaoling Tie, Fengyu Che, Guoxia Wang, Ying Ge, Benchang Li and Ying Yang
    Citation: Molecular Cytogenetics 2023 16:11
  15. Noninvasive prenatal testing (NIPT) allows for screening of fetal aneuploidy and copy number variants (CNVs) from cell-free DNA (cfDNA) in maternal plasma. Professional societies have not yet embraced NIPT for...

    Authors: Erica Soster, John Tynan, Clare Gibbons, Wendy Meschino, Jenna Wardrop, Eyad Almasri, Stuart Schwartz and Graham McLennan
    Citation: Molecular Cytogenetics 2023 16:10
  16. Aicardi–Goutières syndrome (AGS) is a rare, autosomal recessive, hereditary neurodegenerative disorder. It is characterized mainly by early onset progressive encephalopathy, concomitant with an increase in int...

    Authors: Huiling Xu, Jiajie Pu, Suiling Lin, Rui Hu, Jilong Yao and Xuemei Li
    Citation: Molecular Cytogenetics 2023 16:9
  17. Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple, circumscript and usually symmetric bony protuberances called osteochondromas. Most H...

    Authors: Angelos Alexandrou, Nicole Salameh, Ioannis Papaevripidou, Nayia Nicolaou, Panayiotis Myrianthopoulos, Andria Ketoni, Ludmila Kousoulidou, Anna-Maria Anastasiou, Paola Evangelidou, George A. Tanteles and Carolina Sismani
    Citation: Molecular Cytogenetics 2023 16:8
  18. X/Y translocations are highly heterogeneity in terms of clinical genetic effects, and most patients lack complete pedigree analysis for clinical and genetic characterization.

    Authors: Shanquan Liu, Jiemei Zheng, Xijing Liu, Yi Lai, Xuan Zhang, Tiantian He, Yan Yang, He Wang and Xuemei Zhang
    Citation: Molecular Cytogenetics 2023 16:7
  19. Trisomy 21 (Down syndrome) is the most common autosomal aneuploidy among newborns. About 90% result from meiotic nondisjunction during oogenesis, which occurs around conception, when also the most profound epi...

    Authors: Karl Sperling, Hagen Scherb and Heidemarie Neitzel
    Citation: Molecular Cytogenetics 2023 16:6
  20. There are a few studies on the chromosomal aberration of Ultrasound soft markers (USMs). The aim of this study was to determine the detection rate of clinically significant chromosomal abnormalities (CSCA) in ...

    Authors: Yanhong Zhou, Siqi Wu, Jin Han, Li Zhen, Xin Yang, Ru Li, Yongling Zhang, Xiangyi Jing, Fucheng Li and Huishu Liu
    Citation: Molecular Cytogenetics 2023 16:3
  21. The human genome presents variation at distinct levels, copy number variants (CNVs) are DNA segments of variable lengths that range from several base pairs to megabases and are present at a variable number of ...

    Authors: Silvia Sánchez, Ulises Juárez, Julieta Domínguez, Bertha Molina, Rehotbevely Barrientos, Angélica Martínez-Hernández, Alessandra Carnevale, Patricia Grether-González, Dora Gilda Mayen, Camilo Villarroel, Esther Lieberman, Emiy Yokoyama, Victoria Del Castillo, Leda Torres and Sara Frias
    Citation: Molecular Cytogenetics 2023 16:2
  22. Molecular cytogenetic and cytogenomic studies have made a contribution to genetics of epilepsy. However, current genomic research of this devastative condition is generally focused on the molecular genetic asp...

    Authors: Ivan Y. Iourov, Alexandr P. Gerasimov, Maria A. Zelenova, Natalya E. Ivanova, Oksana S. Kurinnaia, Yulia M. Zabrodskaya, Irina A. Demidova, Evgeny R. Barantsevich, Kirill S. Vasin, Alexey D. Kolotii, Vseslav V. Ushanov, Darya A. Sitovskaya, Timur B.-A. Lobzhanidze, Maria E. Iuditskaia, Nikita S. Iakushev, Muslim M. Zhumatov…
    Citation: Molecular Cytogenetics 2023 16:1
  23. Patients with deletions involving the long arm of chromosome 1 are rare. The PBX1 gene is located on chromosome 1q23.3. PBX1 encodes a transcription factor which promotes protein–protein interaction and plays a c...

    Authors: Man Luo, Xia Gu, Ting Zhou and Chaoli Chen
    Citation: Molecular Cytogenetics 2022 15:53
  24. Phelan-McDermid syndrome (PHMDS) is a rare genetic disorder mostly caused by haploinsufficincy of SHANK3 gene, and characterized by neonatal hypotonia, developmental delay, minor dysmorphic features, seizures and...

    Authors: Yousif Khalifa, Hisham Y. Hassan, Anja Weise, Thomas Liehr and Haya Alkhayyat
    Citation: Molecular Cytogenetics 2022 15:52
  25. A patient with a myelodysplastic neoplasm exhibited a karyotype with multiple complex chromosome 5 rearrangements. This patient appeared to have a catastrophic cytogenetic event that manifested as a treatment-...

    Authors: Ramakrishnan Sasi, Jamie Senft, Michelle Spruill, Subit Barua, Sam Dougaparsad, Jeffrey A. Vos and Peter L. Perrotta
    Citation: Molecular Cytogenetics 2022 15:51
  26. Molecular combing technology (MCT) is an effective means for stretching DNA molecules and making them thus accessible for in situ studies. MCT uses the force exerted in the process of liquid flow via surface t...

    Authors: Yiping Wang, Kishore Ramesh Kumar and Thomas Liehr
    Citation: Molecular Cytogenetics 2022 15:50
  27. Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. CNVs identified in prenatal cases need careful considerations and correct interpretation if those are harmless or...

    Authors: Yaqing Zhou, Mingxi Zhang, Yanmin Zhu and Qi Zhao
    Citation: Molecular Cytogenetics 2022 15:49
  28. We describe a fetus with a 2.12-Mb terminal deleted fragment in 16q associated with alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) and lymphedema-distichiasis syndrome (LDS) and int...

    Authors: Xuezhen Wang, Lili Guo, Bei Zhang, Jiebin Wu, Yu Sun, Huimin Tao, Jing Sha, Jingfang Zhai and Min Liu
    Citation: Molecular Cytogenetics 2022 15:48
  29. Neurodevelopmental disorders are genetically heterogeneous pediatric conditions. The first tier diagnostic method for uncovering copy number variations (CNVs), one of the most common genetic etiologies in affe...

    Authors: Anna Lengyel, Éva Pinti, Henriett Pikó, Árvai Kristóf, Tünde Abonyi, Zaránd Némethi, György Fekete and Irén Haltrich
    Citation: Molecular Cytogenetics 2022 15:47
  30. HAP1, a near-haploid human leukemic cancer cell line is often used in combination with CRISPR-Cas9 gene editing technology for genetic screens. HAP1 carries the Philadelphia chromosome (Ph) and an additional ~...

    Authors: Ruby Banerjee, Cibele G. Sotero-Caio, Beiyuan Fu and Fengtang Yang
    Citation: Molecular Cytogenetics 2022 15:46
  31. It is hard to believe that all the cells of a human brain share identical genomes. Indeed, single cell genetic studies have demonstrated intercellular genomic variability in the normal and diseased brain. More...

    Authors: Ivan Y. Iourov, Svetlana G. Vorsanova, Oxana S. Kurinnaia, Sergei I. Kutsev and Yuri B. Yurov
    Citation: Molecular Cytogenetics 2022 15:45
  32. The history of comparative chromosome mapping is briefly reviewed, with discussion about the problem that occurs in chromosome painting when size heteromorphisms between homologues cause contamination in chrom...

    Authors: Malcolm A. Ferguson-Smith, Jorge C. Pereira, Ana Borges and Fumio Kasai
    Citation: Molecular Cytogenetics 2022 15:44
  33. Corpus callosum malformations (CCM) represent one of the most common congenital cerebral malformations with a prevalence of around one for 4000 births. There have been at least 230 reports in the literature co...

    Authors: Bochra Khadija, Khouloud Rjiba, Sarra Dimassi, Wafa Dahleb, Molka Kammoun, Hanen Hannechi, Najoua Miladi, Neziha Gouider-khouja, Ali Saad and Soumaya Mougou-Zerelli
    Citation: Molecular Cytogenetics 2022 15:42
  34. Hemophilia A is considered one of the most common severe hereditary disorders. It is an X-linked recessive disease caused by a deficiency or lack of function of the blood clotting factor VIII. Klinefelter synd...

    Authors: Anibal Gaviria, Santiago Cadena-Ullauri, Francisco Cevallos, Patricia Guevara-Ramirez, Viviana Ruiz-Pozo, Rafael Tamayo-Trujillo, Elius Paz-Cruz and Ana Karina Zambrano
    Citation: Molecular Cytogenetics 2022 15:40
  35. So called cell-free fetal DNA (cffDNA) in the maternal plasma, which is derived from placenta, is widely used to screen fetal aneuploidies, including trisomy 21, 18, 13 and sex chromosomes. Here we reported a ...

    Authors: Junjie Hu, Kai Yan, Pengzhen Jin, Yanmei Yang, Yixi Sun and Minyue Dong
    Citation: Molecular Cytogenetics 2022 15:39
  36. Copy number variants are a substantial source of pathogenic or normal genome variations. Chromosomal imbalances of several megabasepair are normally harmful for the affected person. Still, rarely reported are ...

    Authors: Juan Chen, Ying Zhang and Mingxi Zhang
    Citation: Molecular Cytogenetics 2022 15:38
  37. Complex chromosomal rearrangements (CCR) are rare chromosomal structural abnormalities. The chromosomal structural variants in CCR carriers are one of the factors contributing to a history of adverse pregnancy...

    Authors: Yan Luo, Hezhen Lu, Yanshang Zhang, Zhiqiang Cui, Pingping Zhang and Yali Li
    Citation: Molecular Cytogenetics 2022 15:37
  38. Unbalanced chromosome abnormalities (UBCA) are either gains or losses or large genomic regions, but the affected person is not or only minimally clinically affected. Copy number variants (CNVs) are an importan...

    Authors: Ying Zhang, Juan Chen, Zonghui Feng and Wencheng Li
    Citation: Molecular Cytogenetics 2022 15:34
  39. Complex chromosomal rearrangements involve the restructuring of genetic material within a single chromosome or across multiple chromosomes. These events can cause serious human disease by disrupting coding DNA...

    Authors: Dong Li, Alanna Strong, Cuiping Hou, Helen Downes, Amanda Barone Pritchard, Pamela Mazzeo, Elaine H. Zackai, Laura K. Conlin and Hakon Hakonarson
    Citation: Molecular Cytogenetics 2022 15:33
  40. The mosaic forms and clinical phenotypes of fetuses with isochromosome Y are difficult to predict. Therefore, we summarized the cases of nine fetuses with isochromosome Y identified in prenatal diagnosis with ...

    Authors: Yiqun He, Li Guo, Laiping Zheng, Congmian Ren, Ting Wang and Jian Lu
    Citation: Molecular Cytogenetics 2022 15:32
  41. Partial trisomy 13q is a less common chromosomal abnormality with a great clinical variability, among them, isolated partial trisomy 13q is extremely rare. Here, we report two new unrelated cases of partial tr...

    Authors: Jianlong Zhuang, Chunnuan Chen, Hegan Zhang, Wanyu Fu, Yanqing Li, Yuying Jiang, Shuhong Zeng, Xiaoxia Wu, Yingjun Xie and Gaoxiong Wang
    Citation: Molecular Cytogenetics 2022 15:31
  42. 21q22 amplification is a rare cytogenetic aberration in acute myeloid leukemia (AML). So far, the cytogenomic and molecular features and clinical correlation of 21q22 amplification in AML have not been well-ch...

    Authors: Emily M. Kudalkar, Changlee Pang, Mary M. Haag, Daniel A. Pollyea, Manali Kamdar, Gang Xu, Meng Su, Billie Carstens, Karen Swisshelm and Liming Bao
    Citation: Molecular Cytogenetics 2022 15:30

Annual Journal Metrics

  • 2022 Citation Impact
    1.3 - 2-year Impact Factor
    1.7 - 5-year Impact Factor
    0.662 - SNIP (Source Normalized Impact per Paper)
    0.443 - SJR (SCImago Journal Rank)

    2022 Speed
    3 days submission to first editorial decision for all manuscripts (Median)
    43 days submission to accept (Median)

    2022 Usage 
    310 Altmetric mentions