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  1. Novel fusion genes such as ZNF384, have been identified in B-cell precursor acute lymphoblastic leukemia (BCP-ALL) in recent years. Patients harboring ZNF384 rearrangements have a distinctive immunophenotype with...

    Authors: Jinlong Ma, Jiaheng Guan and Baoan Chen
    Citation: Molecular Cytogenetics 2022 15:4
  2. Double aneuploidy is common, especially in products of conception, frequently involving a combination of a sex chromosome and an acrocentric chromosome. Double autosomal trisomies are rare with only five cases...

    Authors: Christina Mendiola, Veronica Ortega, Allison Britt, Rafael Fonseca and Gopalrao Velagaleti
    Citation: Molecular Cytogenetics 2022 15:1
  3. MEIS2 (Meis homeobox 2) encodes a homeobox protein in the three amino acid loop extension (TALE) family of highly conserved homeodomain-containing transcription regulators important for development. MEIS2 deletio...

    Authors: Bin Zhang, Michel Liu, Chin-To Fong and M. Anwar Iqbal
    Citation: Molecular Cytogenetics 2021 14:58
  4. Chromosome 15q24 microdeletion is a rare genetic disorder characterized by development delay, facial dysmorphism, congenital malformations, and occasional autism spectrum disorder (ASD). In this study, we iden...

    Authors: Yuanyuan Zhang, Xiaoliang Liu, Haiming Gao, Wanting Cui, Bijun Zhang and Yanyan Zhao
    Citation: Molecular Cytogenetics 2021 14:57
  5. Pregnancy loss is one of the most common complications during pregnancy. Clinical consultation based on etiology analysis are critical for reducing anxiety and distress. This study aimed to perform a comprehen...

    Authors: Xiaoqing Wu, Linjuan Su, Xiaorui Xie, Deqin He, Xuemei Chen, Meiying Wang, Linshuo Wang, Lin Zheng and Liangpu Xu
    Citation: Molecular Cytogenetics 2021 14:56
  6. De novo balanced reciprocal translocations mosaicism in fetus conceived using preimplantation genetic testing from a different balanced translocation carrier parent has been rarely reported.

    Authors: Shaoqin Zhang, Jianjiang Zhu, Hong Qi, Limei Xu, Lirong Cai and Ran Meng
    Citation: Molecular Cytogenetics 2021 14:55
  7. An isochromosome of the long arm of chromosome 7, i(7)(q10), and an interstitial deletion of the long arm of chromosome 20, del(20)(q), are the most frequent anomalies in the bone marrow of patients with Shwac...

    Authors: Abdul Waheed Khan, Alyssa Kennedy, Elissa Furutani, Kasiani Myers, Annalisa Frattini, Francesco Acquati, Pamela Roccia, Giovanni Micheloni, Antonella Minelli, Giovanni Porta, Marco Cipolli, Simone Cesaro, Cesare Danesino, Francesco Pasquali, Akiko Shimamura and Roberto Valli
    Citation: Molecular Cytogenetics 2021 14:54
  8. Clonal hematopoiesis (CH) can be found in various myeloid neoplasms (MN), such as myelodysplastic syndromes (MDS), myelodysplastic syndromes/myeloproliferative neoplasms (MDS/MPN), also in pre-MDS conditions.

    Authors: Lijuan Zhang, YuYe Shi, Yue Chen, Shandong Tao, Wenting Shi, Zhengmei He, Kankan Chen, Chunling Wang and Liang Yu
    Citation: Molecular Cytogenetics 2021 14:52
  9. Isolated Congenital Asplenia (ICA, OMIM #271400) is a rare, life-threatening abnormality causing immunodeficiency, which is characterized by the absence of a spleen. Diagnosis should be completed in early chil...

    Authors: Aleksandra Oszer, Katarzyna Bąbol-Pokora, Sylwia Kołtan, Agata Pastorczak and Wojciech Młynarski
    Citation: Molecular Cytogenetics 2021 14:51
  10. Uniparental disomy (UPD) is defined as an inheritance of two chromosomes from only one of the parents with no representative copy from the other. Paternal-origin UPD of chromosome 3 is a very rare condition, w...

    Authors: Xiufen Bu, Xu Li, Shihao Zhou, Liangcheng Shi, Xuanyu Jiang, Can Peng, Hongyu Li and Jun He
    Citation: Molecular Cytogenetics 2021 14:50
  11. During mitosis, chromatin engages in a dynamic cycle of condensation and decondensation. Condensation into distinct units to ensure high fidelity segregation is followed by rapid and reproducible decondensatio...

    Authors: Seana L. Hill, Peter K. Rogan, Yi Xuan Wang and Joan H. M. Knoll
    Citation: Molecular Cytogenetics 2021 14:49
  12. Nance–Horan syndrome (NHS) is a rare X-linked dominant disorder caused by mutation in the NHS gene on chromosome Xp22.13. (OMIM 302350). Classic NHS manifested in males is characterized by congenital cataracts, d...

    Authors: Caroline Miller, Benjamin G. Gertsen, Audrey L. Schroeder, Chin-To Fong, M. Anwar Iqbal and Bin Zhang
    Citation: Molecular Cytogenetics 2021 14:48
  13. There are many reports on rearrangements occurring separately in the regions of chromosomes 9p and 15q affected in the case under study. 15q duplication syndrome is caused by the presence of at least one extra...

    Authors: Natalya A. Lemskaya, Svetlana A. Romanenko, Mariia A. Rezakova, Elena A. Filimonova, Dmitry Yu. Prokopov, Alexander A. Dolskiy, Polina L. Perelman, Yulia V. Maksimova, Asia R. Shorina and Dmitry V. Yudkin
    Citation: Molecular Cytogenetics 2021 14:47
  14. There is little knowledge about partial trisomy 4q and the genotype–phenotype correlation. In this study, we presented the detail of two Chinese families with partial distal 4q duplication in an attempt to cla...

    Authors: Jianlong Zhuang, Na Zhang, Wanyu Fu, Jianfeng Yao, Yanqing Li, Shuhong Zeng, Yuanbai Wang, Yingjun Xie and Yuying Jiang
    Citation: Molecular Cytogenetics 2021 14:46
  15. Relapsed acute myeloid leukemia (AML) is associated with the acquisition of additional somatic mutations which are thought to drive phenotypic adaptability, clonal selection and evolution of leukemic clones du...

    Authors: Yuslina Mat Yusoff, Fadly Ahid, Zahidah Abu Seman, Julia Abdullah, Nor Rizan Kamaluddin, Ezalia Esa and Zubaidah Zakaria
    Citation: Molecular Cytogenetics 2021 14:45
  16. 4q deletion syndrome is a rare chromosomal disorder that mostly arises de novo. The syndrome is characterized by craniofacial dysmorphism, digital abnormalities, skeletal alterations, heart malformations, develop...

    Authors: Juan Pablo Meza-Espinoza, José Alfredo Contreras-Gutiérrez, Eliakym Arámbula-Meraz, Juan Ramón González-García, Ma. Guadalupe Domínguez-Quezada, Noemí García-Magallanes, Jesús Madueña-Molina, Julio Benítez-Pascual, Miriam Partida-Pérez and Verónica Judith Picos-Cárdenas
    Citation: Molecular Cytogenetics 2021 14:43
  17. Central diabetes insipidus (CDI) is a rare complication of myelodysplastic syndrome (MDS). Although the cytogenetic features of patients with MDS and CDI are not clear, CDI in patients with acute myeloid leuke...

    Authors: Yunfan Yang, Ting Lin, Tian Dong and Yu Wu
    Citation: Molecular Cytogenetics 2021 14:42
  18. Copy number gain 17 p13.3p13.1 was detected by chromosomal microarray (CMA) in a girl with developmental/speech delay and facial dysmorphism. FISH studies made it possible to establish that the identified geno...

    Authors: Zhanna G. Markova, Marina E. Minzhenkova, Lyudmila A. Bessonova and Nadezda V. Shilova
    Citation: Molecular Cytogenetics 2021 14:41
  19. The interstitial 6p22.3 deletions concern rare chromosomal events affecting numerous aspects of both physical and mental development. The syndrome is characterized by partial deletion of chromosome 6, which ma...

    Authors: Nikolaos Vrachnis, Ioannis Papoulidis, Dionysios Vrachnis, Elisavet Siomou, Nikolaos Antonakopoulos, Stavroula Oikonomou, Dimitrios Zygouris, Nikolaos Loukas, Zoi Iliodromiti, Efterpi Pavlidou, Loretta Thomaidis and Emmanouil Manolakos
    Citation: Molecular Cytogenetics 2021 14:39
  20. Whole chromosome uniparental disomy (UPD) has been well documented with mechanisms largely understood. However, the etiology of segmental limited UPD (segUPD) is not as clear. In a 10-year period of confirming...

    Authors: Peter R. Papenhausen, Carla A. Kelly, Samuel Harris, Samantha Caldwell, Stuart Schwartz and Andrea Penton
    Citation: Molecular Cytogenetics 2021 14:38
  21. Copy-neutral absence of heterozygosity (CN-AOH) observed on a single chromosome or part of a chromosome may be indicative of uniparental disomy (UPD) and may require additional testing when such chromosomes or...

    Authors: Veronica Ortega, Raymond J. Louie, Melanie A. Jones, Alka Chaubey, Barbara R. DuPont, Allison Britt, Joseph Ray, Scott D. McLean, Rebecca O. Littlejohn and Gopalrao Velagaleti
    Citation: Molecular Cytogenetics 2021 14:37
  22. The terminal 10q26 deletion syndrome is a clinically heterogeneous disorder without identified genotype–phenotype correlations. We reported a case of congenital asymmetric crying facies (ACF) syndrome with 10q...

    Authors: Qinghong Li, Chunmei Sun, Jinzhen Guo, Wen Zhai and Liping Zhang
    Citation: Molecular Cytogenetics 2021 14:36
  23. Chromosomal copy number variants (CNVs) are an important cause of congenital malformations and mental retardation. This study reported a large Chinese pedigree (4-generation, 76 members) with mental retardatio...

    Authors: Dongmei Hao, Yajuan Li, Lisha Chen, Xiliang Wang, Mengxing Wang and Yuexin Yu
    Citation: Molecular Cytogenetics 2021 14:35
  24. Constitutional telomeric associations are very rare events and the mechanism underlying their development is not well understood.

    Authors: Rie Kawamura, Hidehito Inagaki, Midori Yamada, Fumihiko Suzuki, Yuki Naru and Hiroki Kurahashi
    Citation: Molecular Cytogenetics 2021 14:34
  25. Hepatocellular carcinoma (HCC) is the most common type of liver cancer that occurs predominantly in patients with previous liver conditions. In the absence of an ideal screening modality, HCC is usually diagno...

    Authors: Arman Shahrisa, Maryam Tahmasebi-Birgani, Hossein Ansari, Zahra Mohammadi, Vinicio Carloni and Javad Mohammadi Asl
    Citation: Molecular Cytogenetics 2021 14:33
  26. To investigate the clinical value of non-invasive prenatal testing (NIPT) to screen for chromosomal abnormalities in twin pregnancies and to provide further data on NIPT manifestations in twin pregnancies.

    Authors: Yuan Cheng, Xinran Lu, Junxiang Tang, Jingran Li, Yuxiu Sun, Chaohong Wang and Jiansheng Zhu
    Citation: Molecular Cytogenetics 2021 14:32
  27. Fetoplacental discrepancies occur in approximately 1–2% of analyzed prenatal cases. They are typically due to confined placental mosaicism, where an aberration is observed in the placental cells but not found ...

    Authors: Eini Westenius, Maria Pettersson and Erik Björck
    Citation: Molecular Cytogenetics 2021 14:30
  28. Terminal deletion of chromosome 10p is a rare chromosomal abnormality. We report a neonatal case with a large deletion of 10p15.3p13 diagnosed early because of severe clinical manifestations.

    Authors: Qiao-Yan Shao, Pei-Lin Wu, Bi-Yun Lin, Sen-Jing Chen, Jian Liu and Su-Qing Chen
    Citation: Molecular Cytogenetics 2021 14:29
  29. The translocation t(8;21)(q22;q22) is one of the most frequent chromosomal abnormalities associated with acute myeloid leukemia (AML) sub type M2. About 3–5 % of cases with additional chromosomal abnormalities...

    Authors: Shiba Ranjan Mishra, Leena Rawal, Moneeb A. K. Othman, Atul Thatai, Aditi Sarkar, Vandana Lal and Saurabh Kumar Bhattacharya
    Citation: Molecular Cytogenetics 2021 14:28
  30. Acute myeloid leukemia (AML) is rare in children. Although complex karyotype (CK) defined as ≥ 3 cytogenetic abnormalities is an adverse risk factor in adult AML, its prognostic impact on childhood AML remains...

    Authors: Xi Chen, Xingjuan Wang, Hu Dou, Zhenzhen Yang, Junqin Bi, Yi Huang, Ling Lu, Jie Yu and Liming Bao
    Citation: Molecular Cytogenetics 2021 14:27
  31. Discordance between traditional cytogenetic and molecular cytogenetic tests is rare but not uncommon. The explanation of discordance between two genetic methods is difficult but especially important for geneti...

    Authors: Shaobin Lin, Shufang Huang, Xueling Ou, Heng Gu, Yonghua Wang, Ping Li and Yi Zhou
    Citation: Molecular Cytogenetics 2021 14:26
  32. Although a few studies have investigated a possible association between maternal age and fetal sex chromosome aneuploidies (SCAs), most of these studies were limited to advanced maternal age (AMA) women and th...

    Authors: Hongge Li, Yuchan Mao and Jinglei Jin
    Citation: Molecular Cytogenetics 2021 14:25
  33. Myelodysplastic syndrome (MDS), a heterogeneous group of hematopoietic malignancy, has been shown to present different cytogenetic abnormalities, risk factors, and clinico-hematological features in different p...

    Authors: Mostafa Paridar, Kazem Zibara, Seyed Esmaeil Ahmadi, Abbas Khosravi, Maral Soleymani, Ebrahim Azizi and Omid Kiani Ghalesardi
    Citation: Molecular Cytogenetics 2021 14:24
  34. Infantile hypercalcemia is an autosomal recessive disorder caused either by mutations in the CYP24A1 gene (20q13.2) or in the SLC34A1 gene (5q35.3). This disease is characterized by hypercalcemia, hypercalciuria ...

    Authors: Marguerite Hureaux, Sandra Chantot-Bastaraud, Kévin Cassinari, Edouard Martinez Casado, Ariane Cuny, Thierry Frébourg, Rosa Vargas-Poussou and Anne-Claire Bréhin
    Citation: Molecular Cytogenetics 2021 14:23
  35. Aneuploidy is the most frequent cause of early-embryo abortion. Any defect in chromosome segregation would fail to satisfy the spindle assembly checkpoint (SAC) during mitosis, halting metaphase and causing an...

    Authors: Juan Zhao, Hui Li, Guangxin Chen, Lijun Du, Peiyan Xu, Xiaoli Zhang, Min Xie, Tiansheng Cao and Haibo Li
    Citation: Molecular Cytogenetics 2021 14:22
  36. The OncoScan microarray assay (OMA) using highly multiplexed molecular inversion probes for single nucleotide polymorphism (SNP) loci enabled the detection of cytogenomic abnormalities of chromosomal imbalance...

    Authors: Jiadi Wen, Brittany Grommisch, Autumn DiAdamo, Hongyan Chai, Sok Meng Evelyn Ng, Pei Hui, Allen Bale, Winifred Mak, Guilin Wang and Peining Li
    Citation: Molecular Cytogenetics 2021 14:21
  37. The Genome Reference Consortium (GRC) has according to its own statement the “mission to improve the human reference genome assembly, correcting errors and adding sequence to ensure it provides the best repres...

    Authors: Thomas Liehr
    Citation: Molecular Cytogenetics 2021 14:20
  38. The phenotypes of uniparental disomy (UPD) are variable, which may either have no clinical impact, lead to clinical signs and symptoms. Molecular analysis is essential for making a correct diagnosis. This stud...

    Authors: Lili Zhou, Zhaoke Zheng, Yunzhi Xu, Xiaoxiao Lv, Chenyang Xu and Xueqin Xu
    Citation: Molecular Cytogenetics 2021 14:19
  39. Non-invasive prenatal testing (NIPT) is a rapidly developing and widely used method in the prenatal screening. Recently, the widespread use of the NIPT caused a neglecting of the limitations of this technology.

    Authors: Justyna Domaradzka, Marta Deperas, Ewa Obersztyn, Anna Kucińska-Chahwan, Nathalie Brison, Kris Van Den Bogaert, Tomasz Roszkowski, Marta Kędzior, Magdalena Bartnik-Głaska, Alicja Łuszczek, Krystyna Jakubów-Durska, Joris Robert Vermeesch and Beata Anna Nowakowska
    Citation: Molecular Cytogenetics 2021 14:18
  40. An amendment to this paper has been published and can be accessed via the original article.

    Authors: Emanuele G. Coci, Udo Koehler, Thomas Liehr, Armin Stelzner, Christian Fink, Hendrik Langen and Joachim Riedel
    Citation: Molecular Cytogenetics 2021 14:17

    The original article was published in Molecular Cytogenetics 2016 9:10

  41. Although, molecular genetic analyses became more and more important to guide therapy decisions in leukemia, banding cytogenetic analysis has retained its vital role in diagnosis and monitoring of chronic myelo...

    Authors: Ahmed Maseh Haidary, Zeeshan Ansar Ahmed, Jamshid Abdul-Ghafar, Soma Rahmani, Sarah Noor, Farahnaz Erfani, Maryam Ahmad, Naeem Lakanwall, Haider Ali Malakzai, Abdul Sami Ibrahimkhil, Esmatullah Esmat, Mujtaba Haidari, Nimattullah Yousufzai, Samuel Sharif and Abdul Hadi Saqib
    Citation: Molecular Cytogenetics 2021 14:16
  42. Partial amphiploids created by crossing octoploid tritelytrigia(2n = 8× = 56, AABBDDEE) and Thinopyrum intermedium (2n = 6× = 42, StStJJJSJS) are important intermediates in wheat breeding because of their resista...

    Authors: Hui Wang, Shuwei Cheng, Yue Shi, Shuxin Zhang, Wei Yan, Weifu Song, Xuefeng Yang, Qingjie Song, Bo Jang, Xiaoyue Qi, Xinling Li, Bernd Friebe and Yanming Zhang
    Citation: Molecular Cytogenetics 2021 14:15
  43. Molecular genetic testing for the 11p15-associated imprinting disorder Beckwith-Wiedemann syndrome (BWS) is challenging because of the molecular heterogeneity and complexity of the affected imprinted regions. ...

    Authors: Huling Jiang, Zepeng Ping, Jianguo Wang, Xiaodan Liu, Yuxia Jin, Suping Li, Chiyan Zhou, Pinghua Huang, Yi Jin, Ling Ai and Jie Chen
    Citation: Molecular Cytogenetics 2021 14:14
  44. Small supernumerary marker chromosomes (sSMCs) are additional derivative chromosomes present in an otherwise numerically and structurally normal karyotype. They may derive from each of the 24 human chromosomes...

    Authors: Thomas Liehr, Heather E. Williams, Monika Ziegler, Stefanie Kankel, Niklas Padutsch and Ahmed Al-Rikabi
    Citation: Molecular Cytogenetics 2021 14:13
  45. Wolf–Hirschhorn (WHS) is a set of congenital physical anomalies and mental retardation associated with a partial deletion of the short arm of chromosome 4. To establish a genotype–phenotype correlation; we car...

    Authors: Khouloud Rjiba, Hédia Ayech, Olfa Kraiem, Wafa Slimani, Afef Jelloul, Imen Ben Hadj Hmida, Nabiha Mahdhaoui, Ali Saad and Soumaya Mougou-Zerelli
    Citation: Molecular Cytogenetics 2021 14:12

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