Literature DB >> 33104991

Chromosomal abnormality, laboratory techniques, tools and databases in molecular Cytogenetics.

Abbasali Emamjomeh1,2, Behzad Hajieghrari3, Somayeh Montazerinezhad4.   

Abstract

Cytogenetics is concerned with the structure and number of chromosomes (Karyotyping) and their abnormalities not only in congenital but also in acquired genetic disorders. Chromosomal abnormalities can form when there is an error occurred in chromosome number and, or their structural changes. Such changes happen by itself or inductively by environmental agents like chemical reagents, radiation, etc. Cytogenetics techniques used to understand chromosomal disorders and their relationship to health and disease provide not only valuable clues about chromosome breakage and DNA repair mechanisms but also a more proper understanding of their relationship to cause various illnesses. In this sense, to evaluate chromosomal imbalance and rearrangement, alternative experimental methods have been expanded. Currently, Cytogenetics evolves into a multidimensional science that led to promoting both theoretically and technologically advanced molecular biology, flow cytometry, bioinformatics, and phylogeny. This study investigates the unique laboratory Cytogenetics methods, databases, algorithms, and software used molecular Cytogenetics to identify various chromosomal abnormalities.

Entities:  

Keywords:  Algorithm; Chromosomal rearrangement; Cytogenetic; Database; Software

Mesh:

Year:  2020        PMID: 33104991     DOI: 10.1007/s11033-020-05895-5

Source DB:  PubMed          Journal:  Mol Biol Rep        ISSN: 0301-4851            Impact factor:   2.316


  39 in total

1.  Molecular cytogenetics: karyotype evolution, phylogenomics and future prospects.

Authors:  T J Robinson; F Yang
Journal:  Heredity (Edinb)       Date:  2012-01       Impact factor: 3.821

2.  Cytogenetic evaluation: a primer for pediatric nurse practitioners.

Authors:  Ann-Leslie Zaslav; Marie Ann Marino; Corrine Y Jurgens; Theresa Mercado
Journal:  J Pediatr Health Care       Date:  2012-05-16       Impact factor: 1.812

3.  Precise gene dosage determination by polymerase chain reaction: theory, methodology, and statistical approach.

Authors:  M B Lubin; J D Elashoff; S J Wang; J I Rotter; H Toyoda
Journal:  Mol Cell Probes       Date:  1991-08       Impact factor: 2.365

Review 4.  Rapid detection of aneuploidies by microsatellite and the quantitative fluorescent polymerase chain reaction.

Authors:  M Adinolfi; B Pertl; J Sherlock
Journal:  Prenat Diagn       Date:  1997-12       Impact factor: 3.050

5.  Measurement and purification of human chromosomes by flow cytometry and sorting.

Authors:  A V Carrano; J W Gray; R G Langlois; K J Burkhart-Schultz; M A Van Dilla
Journal:  Proc Natl Acad Sci U S A       Date:  1979-03       Impact factor: 11.205

6.  Global variation in copy number in the human genome.

Authors:  Richard Redon; Shumpei Ishikawa; Karen R Fitch; Lars Feuk; George H Perry; T Daniel Andrews; Heike Fiegler; Michael H Shapero; Andrew R Carson; Wenwei Chen; Eun Kyung Cho; Stephanie Dallaire; Jennifer L Freeman; Juan R González; Mònica Gratacòs; Jing Huang; Dimitrios Kalaitzopoulos; Daisuke Komura; Jeffrey R MacDonald; Christian R Marshall; Rui Mei; Lyndal Montgomery; Kunihiro Nishimura; Kohji Okamura; Fan Shen; Martin J Somerville; Joelle Tchinda; Armand Valsesia; Cara Woodwark; Fengtang Yang; Junjun Zhang; Tatiana Zerjal; Jane Zhang; Lluis Armengol; Donald F Conrad; Xavier Estivill; Chris Tyler-Smith; Nigel P Carter; Hiroyuki Aburatani; Charles Lee; Keith W Jones; Stephen W Scherer; Matthew E Hurles
Journal:  Nature       Date:  2006-11-23       Impact factor: 49.962

Review 7.  Gene dosage methods as diagnostic tools for the identification of chromosome abnormalities.

Authors:  L Gouas; C Goumy; L Véronèse; A Tchirkov; P Vago
Journal:  Pathol Biol (Paris)       Date:  2008-06-02

Review 8.  Human cytogenetics: 46 chromosomes, 46 years and counting.

Authors:  Barbara J Trask
Journal:  Nat Rev Genet       Date:  2002-10       Impact factor: 53.242

9.  Chromosomal rearrangements in three infertile men.

Authors:  D Abeliovich; G Potashnik; H Dar; N Lugasi; D Rave
Journal:  Andrologia       Date:  1986 Mar-Apr       Impact factor: 2.775

10.  dbCRID: a database of chromosomal rearrangements in human diseases.

Authors:  Fanlou Kong; Jing Zhu; Jun Wu; Jianjian Peng; Ying Wang; Qing Wang; Songbin Fu; Li-Lian Yuan; Tongbin Li
Journal:  Nucleic Acids Res       Date:  2010-11-04       Impact factor: 16.971

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  1 in total

1.  Copy number variation characterization and possible candidate genes in miscarriage and stillbirth by next-generation sequencing analysis.

Authors:  Xia Zhang; Qingyan Huang; Zhikang Yu; Heming Wu
Journal:  J Gene Med       Date:  2021-08-20       Impact factor: 4.152

  1 in total

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