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  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. Since 2011, noninvasive prenatal testing (NIPT) has undergone rapid expansion, with both utilization and coverage. However, conclusive data regarding the clinical validity and utility of this testing tool are ...

    Authors: Siping Liu, Fang Yang, Qingxian Chang, Bei Jia, Yushuang Xu, Ruifeng Wu, Liyan Li, Weishan Chen, Ailan Yin, Fodi Huang, Suxin Feng and Fenxia Li
    Citation: Molecular Cytogenetics 2022 15:29
  11. Proximal region of chromosome 15 long arm is rich in duplicons that, define five breakpoints (BP) for 15q rearrangements. 15q11.2 microdeletion has been previously associated with developmental delay, mental r...

    Authors: Wenjuan Tang, Guowei Chen, Jingshu Xia and Ying Zhang
    Citation: Molecular Cytogenetics 2022 15:28
  12. There are a few literature reports of prenatal ultrasound manifestations of Williams-Beuren syndrome. We aimed to explore the prenatal diagnosis of Williams-Beuren syndrome by ultrasound and chromosomal microa...

    Authors: Ruibin Huang, Hang Zhou, Fang Fu, Ru Li, Tingying Lei, Yingsi Li, Ken Cheng, You Wang, Xin Yang, Lushan Li, Xiangyi Jing, Yongling Zhang, Fucheng Li, Dongzhi Li and Can Liao
    Citation: Molecular Cytogenetics 2022 15:27
  13. Small supernumerary marker chromosomes (sSMC) are additional centric chromosome fragments too small to be identified by banding cytogenetics alone. A sSMC can originate from any chromosome and it is estimated ...

    Authors: Roberta Giansante, Chiara Palka Bayard De Volo, Melissa Alfonsi, Elisena Morizio and Paolo Guanciali Franchi
    Citation: Molecular Cytogenetics 2022 15:26
  14. Tetrasomy 18p syndrome is a rare chromosomal disorder that is caused by the presence of isochromosome 18p. Most tetrasomy 18p cases are de novo cases and maternal origin of trisomy 18p is a rare condition. At ...

    Authors: Can Peng, SiYuan LinPeng, Xiufen Bu, XuanYu Jiang, LanPing Hu, Jun He and ShiHao Zhou
    Citation: Molecular Cytogenetics 2022 15:25
  15. Partial trisomy 9p is one of the most frequent autosome anomalies in newborn infants featured by craniofacial dysmorphism, intellectual disability and psychomotor growth. Female patients carrying monosomy Xq u...

    Authors: Qiong Wu, Hui Kong, Yanyan Shen and Jing Chen
    Citation: Molecular Cytogenetics 2022 15:24
  16. Structural chromosomal rearrangements result from different mechanisms of formation, usually related to certain genomic architectural features that may lead to genetic instability. Most of these rearrangements...

    Authors: Bruna Burssed, Malú Zamariolli, Fernanda Teixeira Bellucco and Maria Isabel Melaragno
    Citation: Molecular Cytogenetics 2022 15:23
  17. Chromosome aberrations of 10p monosomy and 10q trisomy resulting from parental pericentric inversion 10 are extremely rare, and to date, very few reports have been published on the matter.

    Authors: Jianlong Zhuang, Chunnuan Chen, Rongfu Huang, Qi Luo, Yuying Jiang, Shuhong Zeng, Yuanbai Wang and Yingjun Xie
    Citation: Molecular Cytogenetics 2022 15:22
  18. Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. Unbalanced chromosome abnormalities (UBCA) are either gains or losses or large genomic regions, but the affected ...

    Authors: Jieping Song, Wei Jiang, Chengcheng Zhang and Bo Wang
    Citation: Molecular Cytogenetics 2022 15:21
  19. Using combined fluorescence in situ hybridization (FISH) and high-throughput whole-genome sequencing (WGS) molecular cytogenetic technology, we aim to analyze the junction breakpoints of complex chromosome rea...

    Authors: Ping He, Xiaoni Wei, Yuchan Xu, Jun Huang, Ning Tang, Tizhen Yan, Chuanchun Yang and Kangmo Lu
    Citation: Molecular Cytogenetics 2022 15:20
  20. Silver-Russell syndrome (SRS) is a genetic disorder characterized by intrauterine and postnatal growth restriction, relative macrocephaly at birth, body asymmetry and typical facial features. Clinical and mole...

    Authors: Naomi Baba, Anna Lengyel, Eva Pinti, Elzem Yapici, Isolde Schreyer, Thomas Liehr, György Fekete and Thomas Eggermann
    Citation: Molecular Cytogenetics 2022 15:19
  21. Uniparental disomy (UPD) refers to an epigenomic abnormality in which both copies of, or a part of, a homologous pair of chromosomes are inherited from one parent. UPD arises via a number of mechanisms, includ...

    Authors: Chunjiao Yu, Ying Tian, Liang Qi and Bo Wang
    Citation: Molecular Cytogenetics 2022 15:18
  22. Partial trisomy of the long arm of chromosome 11 is a rare cytogenetic abnormality. It has been characterized by variable sized duplications that lead to a range of phenotypes including growth retardation, dev...

    Authors: Austin Walker, Xianfu Wang, Young Mi Kim, Xianglan Lu, Ashley Taylor, Danielle Demarzo, Shibo Li and Hui Pang
    Citation: Molecular Cytogenetics 2022 15:17
  23. Noninvasive prenatal testing (NIPT) is the most recent modality widely used in prenatal diagnostics. Commercially available NIPT has high sensitivity and specificity for the common fetal chromosomal aneuploidi...

    Authors: Hana Sahinbegovic, Stephanie Andres, Sabine Langer-Freitag, Aspasia Divane, Fotini Ieremiadou, Senad Mehmedbasic and Aida Catic
    Citation: Molecular Cytogenetics 2022 15:16
  24. Ring chromosomes can be formed by terminal breaks of two arms of a chromosome and their rejoining, leading to a loss of genetic material. They may also be formed by telomere-telomere fusions with no deletion, ...

    Authors: Hunjin Luo, Liu Ni, Yi-Qiong Yang, Xiao-Min Zhang, Hongping Huang, Sainan Tan, Chen Ling, Li Liang, Ling Wang, Tang Dan, Shu-Xiang Zhou and Chunliu Yang
    Citation: Molecular Cytogenetics 2022 15:15
  25. Maternal non-Robertsonian translocation-t(20;22)(q13;q11.2) between chromosomes 20 and 22resulting in an additional complex small supernumerary marker chromosome as derivative (22)inherited to the proband is n...

    Authors: H. C. Manju, Supriya Bevinakoppamath, Deepa Bhat, Akila Prashant, Jayaram S. Kadandale and P. V. V. Gowri Sairam
    Citation: Molecular Cytogenetics 2022 15:14
  26. Analyses of miscarriage products indicate that the majority of aneuploidies in early developing embryos derive from errors occurring during maternal meiosis and the paternal contribution is less than 10%. Our ...

    Authors: N. Samara, S. Peleg, T. Frumkin, V. Gold, H. Amir, Einat Haikin Herzberger, A. Reches, Y. Kalma, Dalit Ben Yosef, F. Azem and M. Malcov
    Citation: Molecular Cytogenetics 2022 15:11
  27. Unbalanced translocations may be de novo or inherited from one parent carrying the balanced form and are usually present in all cells. Mosaic unbalanced translocations are extremely rare with a highly variable...

    Authors: Xiaolin Hu, Elizabeth K. Baker, Jodie Johnson, Stephanie Balow, Loren D. M. Pena, Laura K. Conlin, Qiaoning Guan and Teresa A. Smolarek
    Citation: Molecular Cytogenetics 2022 15:10
  28. Klinefelter syndrome is a common chromosomal (aneuploidy) disorder associated with an extra X chromosome in males. Regardless of numerous studies dedicated to somatic gonosomal mosaicism, Klinefelter syndrome ...

    Authors: Svetlana G. Vorsanova, Irina A. Demidova, Alexey D. Kolotii, Oksana S. Kurinnaia, Victor S. Kravets, Ilya V. Soloviev, Yuri B. Yurov and Ivan Y. Iourov
    Citation: Molecular Cytogenetics 2022 15:8
  29. Overlapping microdeletions of chromosome 3q26-3q28 have been reported in eight individuals. The common phenotype observed in these individuals include intrauterine growth restriction, short stature, microcepha...

    Authors: Subit Barua, Elaine M. Pereira, Vaidehi Jobanputra, Kwame Anyane-Yeboa, Brynn Levy and Jun Liao
    Citation: Molecular Cytogenetics 2022 15:7
  30. With the introduction of genetic tests such as chromosomal microarray analysis (CMA) and exome sequencing (ES) into fetal medical practices, genotype–phenotype correlations in intrauterine-onset disorders have...

    Authors: Guangquan Chen, Shiyi Xiong, Gang Zou, Fengyu Wu, Xiaoxing Qu, Salem Alawbathani and Luming Sun
    Citation: Molecular Cytogenetics 2022 15:6
  31. 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
  32. A rare disease is that an individual with a non-chimeric karyotype of 45,X develops into a male. We explored the genetic aetiology of an infertile male with an apparent 45,X karyotype, which was subsequently v...

    Authors: Shengfang Qin, Xueyan Wang, Jin Wang, Zhuo Zhang, Ximin Chen, Yan Yin, Mengling Ye and Jesse Li-Ling
    Citation: Molecular Cytogenetics 2022 15:3
  33. 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
  34. 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
  35. 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
  36. 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
  37. 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
  38. 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
  39. 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
  40. 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
  41. 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

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