From the Genesis of Down syndrome: What we know and what we stll need to know Abdul-rahmon Adewuyi Olagunju 1* and Mustapha Akajewole Masud 2,3 1 Department of Physiology, Federal University of Technology, Akure, Nigeria 2 Department of Human Anatomy, School of Health and Medical Sciences, State University of Zanzibar, Zanzibar, Tanzania 3 Department of Clinical Anatomy, School of Laboratory Medicine and Medical Sciences, College of Health Sciences, Westville Campus, University of KwaZulu-Natal, Durban, South Africa * Corresponding author: Olagunju ARA, Department of Physiology, Federal University of Technology, Akure, Nigeria, E-mail: olagunjuabdulrahman3@gmail.com Citation: Olagunju ARA, Masud MA (2021) From the Genesis of Down Syndrome: What we know and what we still need to know. Clin Psychiatry Vol.7 No. 1:77. Received date: December 19, 2020; Accepted date: January 4, 2021; Published date: January 11, 2021 Abstract Despite years of intensive studies on DS, the clinical importance and recent understanding between the syndrome and maternal age, paternal age, habitual and environmental risk factors are relatvely identfed. Studies indicated that the vast majority of errors leading to trisomy 21 are due to errors in the egg, as nearly 90% of cases involve an additonal maternal chromosome. There are many cases that the maternal is not prone to these risk factors but stll by chance give birth to a child with DS. However, this can be atributed to altered chromosomal recombinaton. Today, technology has helped in the diagnosis of this anomaly with the inventon of next-generaton sequencing technologies which enabled testng of multple disease genes simultaneously, ranging from targeted gene panels to Exome Sequencing (ES) and Genome Sequencing (GS). A growing number of studies demonstrate that GS can detect an unparalleled range of pathogenic abnormalites in a single laboratory workfow. GS has the potental to deliver unbiased, rapid and accurate molecular diagnoses to patents across diverse clinical indicatons and complex presentatons, but the prognosis of DS remains enigma. Most studies argued that pregnant women diagnosed of DS has the choice to either terminate or contnue with the pregnancy, in which 90% usually terminate the pregnancy even before the general public notce. This shows there's stll a lot to do on the prognosis. This review suggests ways with the inventon of technology how this anomaly can be treated immediately afer the diagnosis. Keywords: Aneuploidy; Down Syndrome (DS); Exome Sequencing (ES); Genome Sequencing (GS) History Victor A. McKusick in his recently edited artcle on Down syndrome told some tales on DS where he referenced [1] who frst reported the associaton between Down syndrome and heart malformaton. Abbot [2] who drew atenton to the associaton between Atrioventricular Septal Defect (AVSD) and Down Syndrome (DS). Also, Neri et al. [3] provided a detailed review of the history of the scientfc developments leading to the molecular characterizaton of DS. Speculaton about the historic prevalence of DS has included references to apparent depictons of the syndrome in 15th [4] and 16th [5] century paintngs. Martnez-Frias [6] reported what seems likely to be the earliest evidence of the syndrome in a terra-cota head from approximately 500 AD belonging to the Tolteca culture of Mexico, in which 'it is easy to identfy the short palpebral fssures, oblique eyes, midface hypoplasia, and open mouth with macroglossia, fndings that clearly defne the face of a person with DS. Bernal and Briceno [7] examined potery artfacts from the Tumaco-La Tolita culture, which existed on the border of present-day Colombia and Ecuador approximately 2,500 years ago, and described several fgurines with characteristcs suggestve of DS. Bernal and Briceno [7] believed these artfacts to be among the earliest artstc representatons of disease. Introducton The whole journey started in 1866 when John Langdon Down initally identfed DS approximately 153 years ago [8]. DS is the genetc manifestaton of trisomy of chromosome 21 [9]. DS is a genetc disorder caused when abnormal cell division results in an extra full or partal copy of chromosome 21. This extra genetc material in turn causes the developmental changes and physical features of Down syndrome. The body been made up of trillions of somatc cells with the capacity to divide into identcal daughter cells facilitatng organismal growth, repair, and response to the changing environment known as “mitosis.” and its counterpart in the gametes, a diferent form of cell division also occurs called “meiosis.” The outcome of meiosis is the creaton of daughter cells, either sperm or egg cells, through reducton division which results in a haploid complement of chromosomes so that on Review Article iMedPub Journals www.imedpub.com Clinical Psychiatry ISSN 2471-9854 Vol.7 No.1:77 2021 © Copyright iMedPub | This article is available from: https://clinical-psychiatry.imedpub.com/ 1