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Technology and methods

Section information

This section welcomes articles from any discipline of molecular cytogenetics not covered by the other journal sections and deals with the implementation of new probe sets, the description of new types of chromosomal abnormalities ( including non clonal chromosome aberrations), or ideas around the vital field of molecular cytogenetic research.  Descriptions of methods or in vitro systems used to study karyotype evolution or quantify chromosome instability are welcome.

  1. 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

    Published on:

  3. 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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  4. 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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  5. 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

    Published on:

  6. Uniparental disomy (UPD) is a rare condition in which a child inherits both copies of a chromosome or chromosome segment from one parent. Medical consequences of UPD may include abnormal imprinting, unmasking ...

    Authors: Elizabeth R. Kerr, Gary M. Stuhlmiller, George C. Maha, Mark A. Ladd, Fady M. Mikhail, Ruth P. Koester and Anna C. E. Hurst

    Citation: Molecular Cytogenetics 2018 11:60

    Content type: Case Report

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  7. Non-invasive prenatal testing (NIPT) as alternative screening method had been proven to have very high sensitivity and specificity for detecting common aneuploidies such as T21, T18, and T13, with low false po...

    Authors: Hongge Li, Yu Lei, Hui Zhu, Yuqin Luo, Yeqing Qian, Min Chen, Yixi Sun, Kai Yan, Yanmei Yang, Bei Liu, Liya Wang, Yingzhi Huang, Junjie Hu, Jianyun Xu and Minyue Dong

    Citation: Molecular Cytogenetics 2018 11:59

    Content type: Research

    Published on:

  8. Application of chromosomal microarray analysis (CMA) to investigate the genetic characteristics of fetal growth restriction (FGR) without ultrasonic structural anomalies at 18–32 weeks.

    Authors: Gang An, Yuan Lin, Liang Pu Xu, Hai Long Huang, Si Ping Liu, Yan Hong Yu and Fang Yang

    Citation: Molecular Cytogenetics 2018 11:33

    Content type: Research

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  9. Detailed karyotyping using metaphase chromosomes in melon (Cucumis melo L.) remains a challenge because of their small chromosome sizes and poor stainability. Prometaphase chromosomes, which are two times longer ...

    Authors: Agus Budi Setiawan, Chee How Teo, Shinji Kikuchi, Hidenori Sassa and Takato Koba

    Citation: Molecular Cytogenetics 2018 11:32

    Content type: Research

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  10. Constitutional ring chromosomes are rare orphan chromosomal disorders. Ring chromosome syndrome featuring growth retardation and mild to intermediate intellectual disability is likely caused by the dynamic beh...

    Authors: Qiping Hu, Hongyan Chai, Wei Shu and Peining Li

    Citation: Molecular Cytogenetics 2018 11:19

    Content type: Review

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  11. Syndromic obesity is an umbrella term used to describe cases where obesity occurs with additional phenotypes. It often arises as part of a distinct genetic syndrome with Prader-Willi syndrome being a classical...

    Authors: Carla Sustek D’Angelo, Monica Castro Varela, Claudia Irene Emílio de Castro, Paulo Alberto Otto, Ana Beatriz Alvarez Perez, Charles Marques Lourenço, Chong Ae Kim, Debora Romeo Bertola, Fernando Kok, Luis Garcia-Alonso and Celia Priszkulnik Koiffmann

    Citation: Molecular Cytogenetics 2018 11:14

    Content type: Research

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  12. Noninvasive prenatal testing (NIPT) based on cell-free DNA in maternal circulation has been accepted worldwide by the clinical community since 2011 but limitations, such as maternal malignancy and fetoplacenta...

    Authors: Chung-Er Huang, Gwo-Chin Ma, Hei-Jen Jou, Wen-Hsiang Lin, Dong-Jay Lee, Yi-Shing Lin, Norman A. Ginsberg, Hsin-Fu Chen, Frank Mau-Chung Chang and Ming Chen

    Citation: Molecular Cytogenetics 2017 10:44

    Content type: Methodology

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  13. Genetic abnormalities, including chromosomal translocations, are described for many hematological malignancies. From the clinical perspective, detection of chromosomal abnormalities is relevant not only for di...

    Authors: Lydie Debaize, Hélène Jakobczyk, Anne-Gaëlle Rio, Virginie Gandemer and Marie-Bérengère Troadec

    Citation: Molecular Cytogenetics 2017 10:27

    Content type: Methodology

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  14. Chromosomal mosaicism is observed as the presence of both euploid and aneuploid cells in a particular blastocyst. Recent studies have reported that the implantation rate of mosaic embryo transfer is remarkably...

    Authors: Hsing-Hua Lai, Tzu-Hsuan Chuang, Lin-Kin Wong, Meng-Ju Lee, Chia-Lin Hsieh, Huai-Lin Wang and Shee-Uan Chen

    Citation: Molecular Cytogenetics 2017 10:14

    Content type: Research

    Published on:

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Molecular Cytogenetics

ISSN: 1755-8166