Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Book Chapter Book Chapter Faculty Publications- Book Chapter Dublin Core The Dublin Core metadata element set is common to all Omeka records, including items, files, and collections. For more information see, http://dublincore.org/documents/dces/. Title A name given to the resource Clinical implications of chromosomal polymorphisms in congenital disorders Subject The topic of the resource Chromosomal polymorphism; Congenital disorders; DNA; Karyotype Description An account of the resource Alterations in the DNA sequence are generally seen in the general population at &gt;1%, and these alterations can be deletions or insertions. Classically, chromosomal polymorphisms (CPMs) are alterations with no significant phenotypic distinctions. However, few studies have shown that the presence of CPM can lead to congenital disabilities, which can be fatal. These variants in the DNA can happen in the form of single nucleotide polymorphisms (SNPs). The human genome is considered full of SNPs, and they are responsible for causing pathological phenotypes and provide insight into pathogenesis, a therapeutic approach to the pathology. About 100 million SNPs are observed in humans for an average of 300 nucleotides. These polymorphisms are detected by using molecular techniques. These polymorphisms are not just restricted to the coding region. The CPMs are first recognized on the chromosomes through molecular techniques, followed by detection of the polymorphism. The CMPs are generally the SNPs, deletions/duplications, and presence of microsatellite DNAs. Here we have summarized the implications of CMPs in a few congenital disorders and the method of diagnosis. The Author(s), under exclusive license to Springer Nature Switzerland AG 2023. Creator An entity primarily responsible for making the resource Meyyazhagan A.; Bhotla H.K.; Pappuswamy M.; Tsibizov V.; Alagamuth K.K.; Di Renzo G.C. Source A related resource from which the described resource is derived Prenatal Diagnostic Testing for Genetic Disorders: The revolution of the Non-Invasive Prenatal Test, pp. 57-66. Publisher An entity responsible for making the resource available Springer International Publishing Date A point or period of time associated with an event in the lifecycle of the resource 2023-01-01 Identifier An unambiguous reference to the resource within a given context <a href="https://doi.org/10.1007/978-3-031-31758-3_4" target="_blank" rel="noreferrer noopener">https://doi.org/10.1007/978-3-031-31758-3_4</a> <br /><br /><a href="https://www.scopus.com/inward/record.uri?eid=2-s2.0-85196242494&amp;doi=10.1007%2F978-3-031-31758-3_4&amp;partnerID=40&amp;md5=b84db01bb2ab709e043efbe9fc629e04" target="_blank" rel="noreferrer noopener">https://www.scopus.com/inward/record.uri?eid=2-s2.0-85196242494&amp;doi=10.1007%2f978-3-031-31758-3_4&amp;partnerID=40&amp;md5=b84db01bb2ab709e043efbe9fc629e04</a> Rights Information about rights held in and over the resource Restricted Access Relation A related resource ISBN: 978-303131758-3; 978-303131757-6 Format The file format, physical medium, or dimensions of the resource Online Language A language of the resource English Type The nature or genre of the resource Book chapter Coverage The spatial or temporal topic of the resource, the spatial applicability of the resource, or the jurisdiction under which the resource is relevant Meyyazhagan A., Centre for Perinatal and Reproductive Medicine, University of Perugia, Perugia, Italy, Department of Life Sciences, CHRIST (Deemed to be University), Bengaluru, Karnataka, India, PREIS International and European School of Perinatal, Neonatal and Reproductive Medicine, Firenze, Italy; Bhotla H.K., Department of Life Sciences, CHRIST (Deemed to be University), Bengaluru, Karnataka, India; Pappuswamy M., Department of Life Sciences, CHRIST (Deemed to be University), Bengaluru, Karnataka, India; Tsibizov V., Institute of Perinatology and Pediatrics, Almazov National Medical Research Centre, Saint-Petersburg, Russian Federation; Alagamuth K.K., Department of Biotechnology, Selvamm Arts and Science College (Autonomous), Namakkal, India; Di Renzo G.C., Centre for Perinatal and Reproductive Medicine, University of Perugia, Perugia, Italy, PREIS International and European School of Perinatal, Neonatal and Reproductive Medicine, Firenze, Italy, Department of Obstetrics and Gynecology, I.M. Sechenov First State University of Moscow, Moscow, Russian Federation