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  1. 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:

  2. 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

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  3. 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

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  4. 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

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  5. 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

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  6. 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

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  7. 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

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  8. 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

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  9. 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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  10. 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

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  11. 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

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  12. 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

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  13. 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

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  14. Long telomeres, the protective caps of eukaryotic chromosomes, which erode during aging, have been the symbol of youth and regenerative potential. It therefore came as a surprise, when several cross-sectional ...

    Authors: Reinhard Stindl

    Citation: Molecular Cytogenetics 2019 12:37

    Content type: Hypothesis

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  15. Nearly 9.89% of chromosome 16 consists of segmental duplications, which makes it prone to non-homologous recombination. The present study aimed to investigate the incidence and perinatal characteristics of sub...

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

    Citation: Molecular Cytogenetics 2019 12:36

    Content type: Research

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  16. The 17p11.2p12 locus is an unstable region that is predisposed to several known genomic disorders and non-recurrent rearrangements that yield varied and wide-ranging phenotypes. Nearly 1% of male newborns have...

    Authors: Liliana Fernández-Hernández, María José Navarro-Cobos, Miguel Angel Alcántara-Ortigoza, Sandra Elena Ramos-Ángeles, Bertha Molina-Álvarez, Sinhué Díaz-Cuéllar, Bárbara Asch-Daich and Ariadna González-del Angel

    Citation: Molecular Cytogenetics 2019 12:35

    Content type: Case Report

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  17. Non-Invasive Prenatal Testing (NIPT) for fetal aneuploidies using cell-free DNA (cfDNA) has been widely adopted in clinical practice due to its improved accuracy. A number of NIPT tests have been developed and...

    Authors: Elena Kypri, Marios Ioannides, Evi Touvana, Ioanna Neophytou, Petros Mina, Voula Velissariou, Spiros Vittas, Alfredo Santana, Filippos Alexidis, Kyriakos Tsangaras, Achilleas Achilleos, Philippos Patsalis and George Koumbaris

    Citation: Molecular Cytogenetics 2019 12:34

    Content type: Research

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  18. Head and neck squamous cell carcinoma (HNSCC) affects multiple sites of the upper aerodigestive tract and exhibited high incidence and mortality worldwide, being frequently diagnosed at advanced stage. Early d...

    Authors: Ilda Patrícia Ribeiro, Joana Barbosa de Melo and Isabel Marques Carreira

    Citation: Molecular Cytogenetics 2019 12:33

    Content type: Review

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  19. Acute promyelocytic leukemia (APL) is characterized by fusion of PML/RARα genes as a result of t(15;17)(q24;q21). APL is now one of the curable hematological malignancies thanks to molecularly targeted therapi...

    Authors: Filomena Nozza, Gabriella Vona, Stefania Trino, Fiorella D’Auria, Francesco La Rocca, Vitina Grieco, Luciana Possidente, Luciana De Luca and Pellegrino Musto

    Citation: Molecular Cytogenetics 2019 12:32

    Content type: Case Report

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  20. This study aimed to estimate the associations of copy number variants (CNVs) with fetal kidney ultrasound anomalies. A total of 331 fetuses with kidney ultrasound anomalies who underwent prenatal chromosomal m...

    Authors: Shaobin Lin, Shanshan Shi, Linhuan Huang, Ting Lei, Danlei Cai, Wenlong Hu, Yi Zhou and Yanmin Luo

    Citation: Molecular Cytogenetics 2019 12:31

    Content type: Research

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  21. Non-invasive prenatal testing (NIPT) has been widely used to detect common fetal chromosome aneuploidies, such as trisomy 13, 18, and 21 (T13, T18, and T21), and has expanded to sex chromosome aneuploidies (SC...

    Authors: Ying Xue, Guodong Zhao, Hong Li, Qin Zhang, Jiafeng Lu, Bin Yu and Ting Wang

    Citation: Molecular Cytogenetics 2019 12:29

    Content type: Research

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  22. Tumorigenesis is a multi-step process which is accompanied by substantial changes in genome organization. The development of these changes is not only a random process, but rather comprise specific DNA regions...

    Authors: Christoph Standfuß, Jonas Parczyk, Jerome Ruhnau and Andreas Klein

    Citation: Molecular Cytogenetics 2019 12:25

    Content type: Research

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  23. Balanced translocation carriers are burdened with fertility issues due to improper chromosome segregation in gametes, resulting in either implantation failure, miscarriage or birth of a child with chromosomal ...

    Authors: Olga Tšuiko, Tuuli Dmitrijeva, Katrin Kask, Pille Tammur, Neeme Tõnisson, Andres Salumets and Tatjana Jatsenko

    Citation: Molecular Cytogenetics 2019 12:28

    Content type: Case Report

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  24. The Fluorescence In Situ Hybridization (FISH) technique is a very useful tool for diagnostic and prognostic purposes in molecular pathology. However, clinical testing on patient tissue is challenging due to va...

    Authors: Shivanand O. Richardson, Manon M. H. Huibers, Roel A. de Weger, Wendy W. J. de Leng, John W. J. Hinrichs, Ruud W. J. Meijers, Stefan M. Willems and Ton L. M. G. Peeters

    Citation: Molecular Cytogenetics 2019 12:27

    Content type: Methodology

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  25. Complex chromosomal rearrangements are constitutive structural aberrations involving three or more breaks. They can be balanced or unbalanced and result in different outcomes, depending on deletion/duplication...

    Authors: Fabrizia Restaldi, Viola Alesi, Angela Aquilani, Silvia Genovese, Serena Russo, Valentina Coletti, Daniele Pompili, Roberto Falasca, Bruno Dallapiccola, Rossella Capolino, Matteo Luciani and Antonio Novelli

    Citation: Molecular Cytogenetics 2019 12:26

    Content type: Case Report

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  26. Etiology of developmental delay/intellectual disability is very heterogeneous. In recent years, genetic causes have been defined through the use of chromosomal microarray analysis as a first step genetic test.

    Authors: Şule Altıner and Nüket Yürür Kutlay

    Citation: Molecular Cytogenetics 2019 12:23

    Content type: Research

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  27. Meningiomas are among the most frequent intracranial tumors. Although the majority of meningiomas can be cured by surgical resection, up to 20% of the patients develop an aggressive clinical course with tumor ...

    Authors: Sina Hemmer, Steffi Urbschat, Joachim Oertel and Ralf Ketter

    Citation: Molecular Cytogenetics 2019 12:22

    Content type: Research

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  28. 15q13.3 syndrome is associated with a wide spectrum of neurological disorders. Among a cohort of 150 neurodevelopmental cases, we identified two patients with two close proximity interstitial hemizygous deleti...

    Authors: Maysoon Alsagob, Mustafa A. Salih, Muddathir H. A. Hamad, Yusra Al-Yafee, Jawaher Al-Zahrani, Albandary Al-Bakheet, Michael Nester, Nadia Sakati, Salma M. Wakil, Ali AlOdaib, Dilek Colak and Namik Kaya

    Citation: Molecular Cytogenetics 2019 12:21

    Content type: Short report

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  29. There are only ten reported cases of interstitial deletions involving cytogenetic bands 10q21.3q22.2 in the literature. Of the ten patients with overlapping 10q21.3q22.2 interstitial deletions, only nine have ...

    Authors: John C. Herriges, Sarah L. Dugan and Allen N. Lamb

    Citation: Molecular Cytogenetics 2019 12:20

    Content type: Case Report

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  30. Copy number variations (CNVs) involving the 17q12 region are associated with a broad range of clinical phenotypes. Deletion of the 17q12 chromosome results in structural or functional abnormalities in the kidn...

    Authors: Shanning Wan, Yunyun Zheng, Yinghui Dang, Tingting Song, Biliang Chen and Jianfang Zhang

    Citation: Molecular Cytogenetics 2019 12:19

    Content type: Case Report

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  31. Environmental risk factors have been shown to alter DNA copy number variations (CNVs). Recently, CNVs have been described to arise after low-dose ionizing radiation in vitro and in vivo. Development of cost- a...

    Authors: Tigran Harutyunyan, Galina Hovhannisyan, Anzhela Sargsyan, Bagrat Grigoryan, Ahmed H. Al-Rikabi, Anja Weise, Thomas Liehr and Rouben Aroutiounian

    Citation: Molecular Cytogenetics 2019 12:18

    Content type: Research

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  32. Many cancers possess an incorrect number of chromosomes, a state described as aneuploidy. Aneuploidy is often caused by Chromosomal Instability (CIN), a process of continuous chromosome mis-segregation. CIN is...

    Authors: Andréa E. Tijhuis, Sarah C. Johnson and Sarah E. McClelland

    Citation: Molecular Cytogenetics 2019 12:17

    Content type: Review

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  33. Deletion or duplication on the distal portion of the long arm of chromosome 1 result in complex and highly variable clinical phenotype including.

    Authors: Xiaofei Cheng, Qifang Yang, Jun Liu, Juan Ye, Huiying Xiao, Gaimei Zhang, Yuanyuan Pan, Xia Li, Ruifeng Hao and Yinfeng Li

    Citation: Molecular Cytogenetics 2019 12:16

    Content type: Case Report

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  34. The annual allotetraploid species Aegilops geniculata harbors a number of traits relevant for wheat improvement. An effective cytogenetic method has yet to be developed to distinguish between each of its 14 chrom...

    Authors: Yingjin Yi, Ke Zheng, Shunzong Ning, Laibin Zhao, Kai Xu, Ming Hao, Lianquan Zhang, Zhongwei Yuan and Dengcai Liu

    Citation: Molecular Cytogenetics 2019 12:15

    Content type: Research

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  35. We have previously described evidence for a statistically significant, global, supra-chromosomal representation of the human body that appears to stretch over the entire genome.

    Authors: Christopher Cherniak and Raul Rodriguez-Esteban

    Citation: Molecular Cytogenetics 2019 12:14

    Content type: Research

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  36. This study aimed to evaluate the feasibility of chromosomal microarray analysis (CMA) in detecting the origin and structure of small supernumerary marker chromosomes (sSMCs) in prenatal and postnatal cases and...

    Authors: Huili Xue, Hailong Huang, Yan Wang, Gang An, Min Zhang, Liangpu Xu and Yuan Lin

    Citation: Molecular Cytogenetics 2019 12:13

    Content type: Research

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  37. Regions of homozygosity (ROH) are continuous homozygous segments commonly seen in the human genome. The integration of single nucleotide polymorphism (SNP) probes into current array comparative genomic hybridi...

    Authors: Jiadi Wen, Kathleen Comerford, Zhiyong Xu, Weiqing Wu, Katherine Amato, Brittany Grommisch, Autumn DiAdamo, Fang Xu, Hongyan Chai and Peining Li

    Citation: Molecular Cytogenetics 2019 12:12

    Content type: Research

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  38. To analyse the meiotic segregation modes of chromosomal structural rearrangements (PGT-SR) of reciprocal translocation in biopsied blastocysts from preimplantation genetic testing and to investigate whether an...

    Authors: Jie Wang, Dong Li, Zhipeng Xu, Zhenyu Diao, Jianjun Zhou, Fei Lin and Ningyuan Zhang

    Citation: Molecular Cytogenetics 2019 12:11

    Content type: Research

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  39. Conventional cytogenetic analysis using G-band karyotyping has been the method of choice for prenatal diagnosis, accurately detecting chromosomal abnormalities larger than 5 Mb. However, the method is ineffici...

    Authors: Dongsook Lee, Sohyun Na, Surim Park, Sanghee Go, Jinyoung Ma, Soonha Yang, Kichul Kim, Seunggwan Lee and Doyeong Hwang

    Citation: Molecular Cytogenetics 2019 12:10

    Content type: Research

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  40. This study evaluated the individual and combined diagnostic performance of the bacterial artificial chromosomes (BACs)-on-Beads (BoBs™) assay and conventional karyotyping for the prenatal detection of chromoso...

    Authors: Zhengyou Miao, Xia Liu, Furong Hu, Ming Zhang, Pingli Yang and Luming Wang

    Citation: Molecular Cytogenetics 2019 12:9

    Content type: Research

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  41. Tight control of endosome trafficking is essential for the generation of a normally patterned embryo. Recent studies have found that VPS50 is a key ingredient in EARP which is required for recycling of interna...

    Authors: Zhiwen Shi, Shuxia Chen, Xiao Han, Rui Peng, Jin Luo, Luming Yang, Yufang Zheng and Hongyan Wang

    Citation: Molecular Cytogenetics 2019 12:8

    Content type: Research

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  42. Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are clinically distinct neurodevelopmental disorders caused by absence of paternally or maternally expressed imprinted genes on chromosome 15q11.2-q13.3 r...

    Authors: Chang Liu, Xiangzhong Zhang, Jicheng Wang, Yan Zhang, Anshi Wang, Jian Lu, Yanlin Huang, Shu Liu, Jing Wu, Li Du, Jie Yang, Hongke Ding, Ling Liu, Xin Zhao and Aihua Yin

    Citation: Molecular Cytogenetics 2019 12:7

    Content type: Research

    Published on:

  43. Small Supernumerary Marker Chromosomes (sSMC) are rare chromosomal abnormalities, which have abnormal banding arrangement and take many shapes. Several disorders have been correlated with sSMC presence. The ai...

    Authors: Wafa Slimani, Hela Ben Khelifa, Sarra Dimassi, Fatma-Zohra Chioukh, Afef Jelloul, Molka Kammoun, Hanene Hannachi, Sarra Bouslah, Nesrine Jammali, Damien Sanlaville, Ali Saad and Soumaya Mougou-Zerelli

    Citation: Molecular Cytogenetics 2019 12:5

    Content type: Research

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  44. In medical genetics, diseases are classified according to the nature (hypothetical nature) of the underlying genetic defect. The classification is “gene-centric” and “factor-centric”; a disease may be, thereby...

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

    Citation: Molecular Cytogenetics 2019 12:4

    Content type: Hypothesis

    Published on:

  45. Nodal marginal zone B-cell lymphoma is a rare entity in which the cytogenetic findings are not well defined. The t(2;14)(p24;q32) has previously been reported in three patients with blastic mantle cell lymphom...

    Authors: Angela Brown, Isabella Sciascia-Visani, Dianna Farrell, Meg Smith, Clive Felix, Vanaja Mutharajah, Jackie Ruell and Graeme Taylor

    Citation: Molecular Cytogenetics 2019 12:3

    Content type: Case Report

    Published on:

  46. The most frequent cytogenetic abnormality detected in chronic lymphocytic leukemia (CLL) patients is the presence of a deletion within the chromosome band 13q14. Deletions can be heterogeneous in size, general...

    Authors: María Paulina Nava-Rodríguez, Martín Daniel Domínguez-Cruz, Lilia Beatriz Aguilar-López, César Borjas-Gutiérrez, María Teresa Magaña-Torres and Juan Ramón González-García

    Citation: Molecular Cytogenetics 2019 12:2

    Content type: Case Report

    Published on:

  47. Isodicentric chromosomes are the most frequent structural aberrations of human Y chromosome, and usually present in mosaicism with a 45, X cell line. Several cytogenetic techniques have been used for diagnosin...

    Authors: Yuan Liu, Li Guo, Hanbiao Chen, Jian Lu, Jingjing Hu, Xianzheng Li, Xing Li, Ting Wang, Fengzhen Li and Aihua Yin

    Citation: Molecular Cytogenetics 2019 12:1

    Content type: Case Report

    Published on:

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