Holden, S. (2019, October 31). Chromosome disorders: chromosomes intro and tool-kit [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved February 28, 2024, from https://hstalks.com/bs/4075/.
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Published on October 31, 2019
Dr. Simon Holden has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
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Hello, I'm Dr. Simon Holden.I'm a consultant in clinical genetics inthe Department of Clinical Genetics at Addenbrooke's Hospital, in Cambridge.I am also an associate lecturer at the University of Cambridge.This presentation is on Chromosome Disorders.Chromosome disorders are common,and it's important that students learn about them.With this talk, we'll be looking at the science ofchromosome analysis and how this relates to clinical practice,then some of the more important clinical features ofthese conditions that we can encounter in the clinic.
At the end of this lecture,students should be familiar with the different types of chromosome disorders andunderstand how they relate to other genomic disorders,which we'll cover in other lectures;be familiar with the nomenclature used todescribe the more common chromosome rearrangements;understand how the behaviour ofchromosome rearrangements at meiosis dictate their inheritance,and, therefore, their recurrence risks;and be able to describe a chromosome rearrangement,and its clinical implications to a patient.
So, chromosome disorders are common;numerical anomalies are by far the most frequent.These include autosomal trisomies, sex chromosome anomalies,unbalanced structural rearrangements,triploidy, and also structurally balanced rearrangements.Overall, in unselected newborns,approximately 0.9 percent of infants will have some form of chromosome anomaly.Up to 20 percent of oocytes and 10 percent of spermhave chromosome number anomalies known as aneuploidy.This means that up to one to three conceptuses- so that'srecognized pregnancies- are trisomic or monosomic.