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  1. Small supernumerary marker chromosomes (sSMC) are a heterogeneous group of structurally abnormal chromosomes, with an incidence of 0,044% in newborns that increases up to almost 7 times in developmentally reta...

    Authors: Eleonora Marchina, Michela Forti, Mariella Tonelli, Stefania Maccarini, Francesca Malvestiti, Chiara Piantoni, Elena Filippini, Elisa Fazzi and Giuseppe Borsani

    Citation: Molecular Cytogenetics 2021 14:6

    Content type: Case Report

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  2. Trisomy 19q is a recognizable syndrome and associated with a wide spectrum of clinical phenotypes in clinic. The purpose of this study was to explore the prenatal phenotypes of 19q13.42 duplication, which was ...

    Authors: Xinyue Zhang, Fagui Yue, Qingyang Shi, Yuting Jiang, Jing He, Leilei Li and Ruizhi Liu

    Citation: Molecular Cytogenetics 2021 14:5

    Content type: Case Report

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  3. Many major structural fetal anomalies can be diagnosed by first trimester fetal anomaly scan. NIPT can accurately detect aneuploidies and large chromosomal aberrations in cfDNA in maternal blood plasma. This s...

    Authors: Malgorzata Ilona Srebniak, Maarten F. C. M. Knapen, Marieke Joosten, Karin E. M. Diderich, Sander Galjaard and Diane Van Opstal

    Citation: Molecular Cytogenetics 2021 14:4

    Content type: Hypothesis

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  4. Deletion of 13q14 [del(13q)] is the most common cytogenetic change (50%) in chronic lymphoblastic leukemia (CLL), and it is a good prognostic factor if it is detected as a sole aberration by FISH. However, it ...

    Authors: Beyhan Durak Aras, Sevgi Isik, Hava Uskudar Teke, Abdulvahap Aslan, Filiz Yavasoglu, Zafer Gulbas, Fatih Demirkan, Hulya Ozen, Oguz Cilingir, Nur Sena Inci, Gulcin Gunden, Tuba Bulduk, Ebru Erzurumluoglu Gokalp, Sinem Kocagil, Sevilhan Artan and Olga Meltem Akay

    Citation: Molecular Cytogenetics 2021 14:2

    Content type: Research

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  5. To assess the positive predictive value (PPV) of noninvasive prenatal testing (NIPT) as a screening test for sex chromosome aneuploidy (SCA) with different maternal characteristics and prenatal decisions in po...

    Authors: Xinran Lu, Chaohong Wang, Yuxiu Sun, Junxiang Tang, Keting Tong and Jiansheng Zhu

    Citation: Molecular Cytogenetics 2021 14:1

    Content type: Research

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  6. Small copy number variations confined to the placenta are extremely rare findings in chorionic villus sampling, nonetheless of great clinical importance. To the best of our knowledge, this is the first reporte...

    Authors: Max Winerdal, Eini Westenius, Michaela Granfors, Maria Pettersson and Erik Iwarsson

    Citation: Molecular Cytogenetics 2020 13:51

    Content type: Case Report

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  7. The U937 cell line is widely employed as a research tool. It has a complex karyotype. A PICALM-MLLT10 fusion gene formed by the recurrent t(10;11) translocation is present, and the myeloid common deleted region a...

    Authors: Ruth N. MacKinnon, Joanne Peverall, Lynda J. Campbell and Meaghan Wall

    Citation: Molecular Cytogenetics 2020 13:50

    Content type: Research

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  8. Chromosome 1p36 deletion syndrome is a contiguous genetic disorder with multiple congenital anomalies and mental retardation. It has been emerging as one of the most common terminal deletion syndromes in human...

    Authors: Li Gao, Junyu Zhang, Xu Han, Wenjing Hu, Jinling Sun, Yuru Tan, Xinrong Zhao, Renyi Hua, Shan Wang, Yan Zhang, Yanlin Wang and Yi Wu

    Citation: Molecular Cytogenetics 2020 13:48

    Content type: Case Report

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  9. Poa L. is a large genus of grass in Gramineae, among which P. pratensis is widely cultivated as turf and forage. Satellite DNA is the main components of the plant genome. Information of satellites will helpful fo...

    Authors: Linna Wei, Bo Liu, Chunping Zhang, Yang Yu, Xiaoxia Yang, Quanwen Dou and Quanmin Dong

    Citation: Molecular Cytogenetics 2020 13:47

    Content type: Research

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  10. Turner syndrome is a genetic disorder that affects women. It is caused by an absent or incomplete X chromosome, which can be presented in mosaicism or not. There are 12 cases of Turner syndrome patients who pr...

    Authors: Paola E. Leone, Verónica Yumiceba, Ariana Jijón-Vergara, Andy Pérez-Villa, Isaac Armendáriz-Castillo, Jennyfer M. García-Cárdenas, Santiago Guerrero, Patricia Guevara-Ramírez, Andrés López-Cortés, Ana K. Zambrano, Jesús M. Hernández-Rivas, Juan Luis García and César Paz-y-Miño

    Citation: Molecular Cytogenetics 2020 13:46

    Content type: Case Report

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  11. Full or partial monosomy of chromosome (chr) 21 is a very rare abnormal cytogenetic finding. It is characterized by variable sizes and deletion breakpoints on the long arm (q) of chr 21 that lead to a broad sp...

    Authors: Abul Kalam Azad, Lindsay Yanakakis, Samantha Issleb, Jessica Turina, Kelli Drabik, Christina Bonner, Eve Simi, Andrew Wagner, Morry Fiddler and Rizwan Naeem

    Citation: Molecular Cytogenetics 2020 13:45

    Content type: Case Report

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  12. B cell precursor acute lymphoblastic leukemia (B-ALL) is the most common malignancy of childhood, with, after corresponding treatment, an overall complete remission rate of 90%. Approximately 75% of B-ALL case...

    Authors: Abdulsamad Wafa, Rami A. Jarjour, Doaa Alolabi, Thomas Liehr, Othman Hamdan, Joana B. Melo, Isabel M. Carreira, Moneeb A. K. Othman and Walid Al-Achkar

    Citation: Molecular Cytogenetics 2020 13:44

    Content type: Case Report

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  13. Monosomy of 1p36 is considered the most common terminal microdeletion syndrome. It is characterized by intellectual disability, growth retardation, seizures, congenital anomalies, and distinctive facial featur...

    Authors: Emiy Yokoyama, Camilo E. Villarroel, Sinhué Diaz, Victoria Del Castillo, Patricia Pérez-Vera, Consuelo Salas, Samuel Gómez, Reneé Barreda, Bertha Molina and Sara Frias

    Citation: Molecular Cytogenetics 2020 13:42

    Content type: Case Report

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  14. Acute leukemias represent the main malignancies occurring among children under the age of 15 years. Around 17% corresponds to acute myeloid leukemia (AML). The cytogenetic analysis of bone marrow complements t...

    Authors: Sinhue Alejandro Brukman-Jimenez, Lucina Bobadilla-Morales, Jorge Román Corona-Rivera, Pablo Alejandro Chávez-Panduro, Citlalli Ortega-de-la-Torre, Uriel Francisco Santana-Bejarano, Elizabeth Torres-Anguiano, Lucero Mendoza-Maldonado, Fernando Antonio Sánchez-Zubieta and Alfredo Corona-Rivera

    Citation: Molecular Cytogenetics 2020 13:41

    Content type: Case Report

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  15. The FOXG1 gene plays a vital role in mammalian brain differentiation and development. Intra- and intergenic mutations resulting in loss of function or altered expression of the FOXG1 gene cause FOXG1 syndrome. Th...

    Authors: Connor P. Craig, Emily Calamaro, Chin-To Fong, Anwar M. Iqbal, Alexander R. Paciorkowski and Bin Zhang

    Citation: Molecular Cytogenetics 2020 13:40

    Content type: Case Report

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  16. The potential correlations between chromosomal abnormalities and craniofacial malformations (CFMs) remain a challenge in prenatal diagnosis. This study aimed to evaluate 118 fetuses with CFMs by applying chrom...

    Authors: Chenyang Xu, Yanbao Xiang, Xueqin Xu, Lili Zhou, Huanzheng Li, Xueqin Dong and Shaohua Tang

    Citation: Molecular Cytogenetics 2020 13:38

    Content type: Research

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  17. Acute myeloid leukemia (AML) is a complex hematological disease characterized by genetic and clinical heterogeneity. The identification and understanding of chromosomal abnormalities are important for the diag...

    Authors: Meng Liu, Yuan Ren, Xianfu Wang, Xianglan Lu, Ming Li, Young Mi Kim, Shibo Li and Lijun Zhang

    Citation: Molecular Cytogenetics 2020 13:37

    Content type: Research

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  18. We presented two cases of mosaic trisomy 2 with high risk of maternal serum screening and non-invasive prenatal testing (NIPT). The invasive amniocentesis was performed and genetic tests including karyotype, s...

    Authors: Ting Wang, Jufei Lian, Congmian Ren, Huamei Huang, Yanlin Huang, Ling Xu, Laiping Zheng, Chanhui Cai and Li Guo

    Citation: Molecular Cytogenetics 2020 13:36

    Content type: Research

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  19. Nijmegen breakage syndrome (NBS) is a rare genetic disorder inherited in an autosomal recessive pattern associated with an increased risk of developing lymphoproliferative disorders, mainly non-Hodgkin lymphom...

    Authors: Monika Włodarczyk and Monika Lejman

    Citation: Molecular Cytogenetics 2020 13:35

    Content type: Case Report

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  20. Progression of chronic myelogenous leukemia (CML) is frequently accompanied by cytogenetic evolution. Additional genetic abnormalities are seen in 10–20% of CML cases at the time of diagnosis, and in 60–80% of...

    Authors: Jin-Ying Gong, Zhen-Hao Zhang, Wei Zhang, Hui-Jun Wang, Xiao-Fang Feng, Ji Zhou and Guo-Qing Zhu

    Citation: Molecular Cytogenetics 2020 13:34

    Content type: Short report

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  21. Fanconi anemia is a rare genetic disorder caused by mutations in genes which protein products are involved in replication, cell cycle control and DNA repair. It is characterized by congenital malformations, bo...

    Authors: Anna Repczynska, Agata Pastorczak, Katarzyna Babol-Pokora, Jolanta Skalska-Sadowska, Malgorzata Drozniewska, Wojciech Mlynarski and Olga Haus

    Citation: Molecular Cytogenetics 2020 13:33

    Content type: Case Report

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  22. 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

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  23. 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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  24. 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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  25. 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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  26. 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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  27. 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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  28. 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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  29. 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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  30. 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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  31. 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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  32. 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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  33. 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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  34. 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

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  35. 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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  36. 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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  37. 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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  38. 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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  39. 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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  40. 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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  41. 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

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  42. 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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  43. 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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  44. 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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  45. 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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  46. 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:

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