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Mosaicism and Chromosome-Genome Instability

This section publishes research on causes and consequences of chromosomal mosaicism and instability. Articles describing theoretical and empirical studies dedicated to exploring the origins of mosaic chromosome abnormalities and genome instability at the chromosomal level are suggested to form the essential body of the section. Descriptions of phenotypic outcomes of chromosomal mosaicism and instability are also welcome. The aim of this Molecular Cytogenetics section is to highlight the role of chromosomal mosaicism and chromosome/genome instability in health and disease.

  1. 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
  2. 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
  3. 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
  4. Chinese hamster ovary cell lines, also known as CHO cells, represent a large family of related, yet quite different, cell lines which are metabolic mutants derived from the original cell line, CHO-ori. Dihydro...

    Authors: Victoria I. Turilova, Tatyana S. Goryachaya and Tatiana K. Yakovleva
    Citation: Molecular Cytogenetics 2021 14:11
  5. Turner’s syndrome is associated with either monosomy or a wide spectrum of structural rearrangements of chromosome X. Despite the interest in studying (somatic) chromosomal mosaicism, Turner’s syndrome mosaici...

    Authors: Svetlana G. Vorsanova, Alexey D. Kolotii, Oksana S. Kurinnaia, Victor S. Kravets, Irina A. Demidova, Ilya V. Soloviev, Yuri B. Yurov and Ivan Y. Iourov
    Citation: Molecular Cytogenetics 2021 14:9
  6. 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
  7. 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