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  1. T-cell acute lymphoblastic leukemia (T-ALL) represents a rare and clinically and genetically heterogeneous disease that constitutes 10–15% of newly diagnosed pediatric ALL cases. Despite improved outcomes of t...

    Authors: Libuse Lizcova, Eva Prihodova, Lenka Pavlistova, Karla Svobodova, Ester Mejstrikova, Ondrej Hrusak, Pavla Luknarova, Iveta Janotova, Lucie Sramkova, Jan Stary and Zuzana Zemanova
    Citation: Molecular Cytogenetics 2024 17:14
  2. Both copy number variant-sequencing (CNV-seq) and karyotype analysis have been used as powerful tools in the genetic aetiology of fetuses with congenital heart diseases (CHD). However, CNV-seq brings clinician...

    Authors: Xuezhen Wang, Jing Sha, Yu Han, Min Pang, Min Liu, Mengna Liu, Bei Zhang and Jingfang Zhai
    Citation: Molecular Cytogenetics 2024 17:12
  3. In prostate cancer (PCa), well-established biomarkers such as MSI status, TMB high, and PDL1 expression serve as reliable indicators for favorable responses to immunotherapy. Recent studies have suggested a po...

    Authors: William Lautert-Dutra, Camila M. Melo, Luiz P. Chaves, Cheryl Crozier, Fabiano P. Saggioro, Rodolfo B. dos Reis, Jane Bayani, Sandro L. Bonatto and Jeremy A. Squire
    Citation: Molecular Cytogenetics 2024 17:11
  4.  Noninvasive prenatal testing (NIPT) is widely used to screen for fetal aneuploidies. However, there are few reports of using NIPT for screening chromosomal microduplications and microdeletions. This study aim...

    Authors: Ye Shi, Fang-xiu Zheng, Jing Wang, Qin Zhou, Ying-ping Chen and Bin Zhang
    Citation: Molecular Cytogenetics 2024 17:10
  5. Trisomy 20 has been shown to be one of the most frequent rare autosomal trisomies in patients that undergo genome-wide noninvasive prenatal testing. Here, we describe the clinical outcomes of cases that screen...

    Authors: Erica Soster, Tamara Mossfield, Melody Menezes, Gloudi Agenbag, Marie-Line Dubois, Jean Gekas, Tristan Hardy and Kelly Loggenberg
    Citation: Molecular Cytogenetics 2024 17:9
  6. Mosaic chromosomal anomalies arising in the product of conception and the final fetal chromosomal arrangement are expression of complex biological mechanisms. The rescue of unbalanced chromosome with selection...

    Authors: Giulia Vitetta, Laura Desiderio, Ilaria Baccolini, Vera Uliana, Giulia Lanzoni, Tullio Ghi, Gianluigi Pilu, Enrico Ambrosini, Patrizia Caggiati, Valeria Barili, Anna Carmela Trotta, Maria Rosaria Liuti, Elisabetta Malpezzi, Maria Carla Pittalis and Antonio Percesepe
    Citation: Molecular Cytogenetics 2024 17:8
  7. Premature ovarian insufficiency (POI) is a clinical condition characterized by ovarian dysfunction in women under 40. The etiology of most POI cases remains unidentified and is believed to be multifactorial, i...

    Authors: Zhifang Peng, Renqi Yang, Qing Liu, Binbin Chen and Panpan Long
    Citation: Molecular Cytogenetics 2024 17:7
  8. Potocki-Lupski syndrome (PTLS, OMIM # 610883) is a rare genetic developmental disorder resulting from a partial heterozygous microduplication at chromosome 17p11.2. The condition is characterized by a wide var...

    Authors: L. N. Kolbasin, T. A. Dubrovskaya, G. B. Salnikova, E. N. Solovieva, M. Yu. Donnikov, R. A. Illarionov, A. S. Glotov, L. V. Kovalenko and L. D. Belotserkovtseva
    Citation: Molecular Cytogenetics 2024 17:6
  9. The primary object of this study is to analyze chromosomal abnormalities in miscarriages detected by copy number variants sequencing (CNV-Seq), establish potential pathways or genes related to miscarriages, an...

    Authors: Yuqi Shao, Saisai Yang, Lin Cheng, Jie Duan, Jin Li, Jiawei Kang, Fang Wang, Juan Liu, Fang Zheng, Jianhong Ma and Yuanzhen Zhang
    Citation: Molecular Cytogenetics 2024 17:4
  10. Chromosomal microarray analysis (CMA) is a valuable tool in prenatal diagnosis for the detection of chromosome uniparental disomy (UPD). This retrospective study examines fetuses undergoing invasive prenatal d...

    Authors: Chenxia Xu, Miaoyuan Li, Tiancai Gu, Fenghua Xie, Yanfang Zhang, Degang Wang and Jianming Peng
    Citation: Molecular Cytogenetics 2024 17:3
  11. The contribution of genetic variants to congenital heart defects (CHDs) has been investigated in many postnatal cohorts but described in few prenatal fetus cohorts. Overall, specific genetic variants especiall...

    Authors: Shaobin Lin, Shanshan Shi, Jian Lu, Zhiming He, Danlun Li, Linhuan Huang, Xuan Huang, Yi Zhou and Yanmin Luo
    Citation: Molecular Cytogenetics 2024 17:2
  12. Uniparental disomy (UPD) is a rare genetic condition leading to potential disease risks. Maternal UPD of chromosome 6 upd(6)mat is exceptionally rare, with limited cases reported. This study reported two new c...

    Authors: Yan Jiang, Yang Xue Xiao, Jiao Jiao Xiong, Victor Wei Zhang, Chang Dong, Lei Xu and Fang Liu
    Citation: Molecular Cytogenetics 2024 17:1
  13. Individuals with X chromosomal translocations, variable phenotypes, and a high risk of live birth defects are of interest for scientific study. These characteristics are related to differential breakpoints and...

    Authors: Ning Huang, Jihui Zhou, Wan Lu, Laipeng Luo, Huizhen Yuan, Lu Pan, Shujun Ding, Bicheng Yang and Yanqiu Liu
    Citation: Molecular Cytogenetics 2023 16:36
  14. Few co-occurrence cases of mosaic aneuploidy and uniparental disomy (UPD) chromosomes have been reported in prenatal periods. It is a big challenge for us to predict fetal clinical outcomes with these chromoso...

    Authors: Shengfang Qin, Xueyan Wang, Jin Wang, Na Xi, Mengjia Yan, Yuxia He, Mengling Ye, Zhuo Zhang and Yan Yin
    Citation: Molecular Cytogenetics 2023 16:35
  15. In this case report, we describe a rare prenatal finding of a small marker chromosome. This marker chromosome corresponds to an inverted duplication of the 13q region 13q31.1q34 (or 13q31.1 → qter) with a neoc...

    Authors: Liselot van der Laan, Daniel R. Hoekman, Esther J. Wortelboer, Marcel M. A. M. Mannens and Angelique J. A. Kooper
    Citation: Molecular Cytogenetics 2023 16:34
  16. Partial duplications involving the long arm of the X chromosome are associated with mental retardation, short stature, microcephaly, and a wide range of physical findings. Female carriers usually have no clini...

    Authors: Shengfang Qin, Jiuzhi Zeng, Jin Wang, Mengling Ye, Qin Deng, Xueyan Wang, Zhuo Zhang, Dangying Yi, Yang Wu and Jesse Li-Ling
    Citation: Molecular Cytogenetics 2023 16:33
  17. Lipoblastomas (LPBs) are rare benign neoplasms derived from embryonal adipose that occur predominantly in childhood. LPBs typically present with numeric or structural rearrangements of chromosome 8, the majori...

    Authors: Joel Lanceta, Joseph Tripodi, Lynne Karp, Meira Shaham, Nayyara Mahmood, Vesna Najfeld, Morris Edelman and Ninette Cohen
    Citation: Molecular Cytogenetics 2023 16:32
  18. Richter transformation (RT) is the development of aggressive lymphoma in patients with chronic lymphocytic leukemia (CLL) or small lymphocytic lymphoma (SLL). This rare disease is characterised by dismal progn...

    Authors: Renata Woroniecka, Grzegorz Rymkiewicz, Zbigniew Bystydzienski, Barbara Pienkowska-Grela, Jolanta Rygier, Natalia Malawska, Katarzyna Wojtkowska, Nikolina Goral, Katarzyna Blachnio, Marcin Chmielewski, Magdalena Bartnik-Glaska and Beata Grygalewicz
    Citation: Molecular Cytogenetics 2023 16:31
  19. To assess prenatal diagnosis and pregnancy outcomes in twin pregnancies where one fetus has nuchal translucency (NT) above the 95th percentile.

    Authors: You Wang, Hang Zhou, Fang Fu, Ken Cheng, Ruibin Huang, Ru Li, Dongzhi Li and Can Liao
    Citation: Molecular Cytogenetics 2023 16:30
  20. Down syndrome myeloid hyperplasia includes transient abnormal myelopoiesis (TAM) and the myeloid leukemia associated with Down syndrome (ML-DS). The mutation of GATA1 gene is essential in the development of Down ...

    Authors: Hui Tang, Jingjing Hu, Ling Liu, Lijuan Lv, Jian Lu, Jiexia Yang, Jiaqi Lu, Zhenhui Chen, Chaoxiang Yang, Dan Chen, Jintao Fu and Jing Wu
    Citation: Molecular Cytogenetics 2023 16:27
  21. 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
  22. 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
  23. 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
  24. 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
  25. 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
  26. 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
  27. 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
  28. 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
  29. 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
  30. 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
  31. 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
  32. 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
  33. 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
  34. 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
  35. 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
  36. 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
  37. 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
  38. 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
  39. 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
  40. 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
  41. 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
  42. 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

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