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Printable Handouts
Navigable Slide Index
- Introduction
- Learning points
- Chromosome disorders are common
- G banded male karyotype
- Genomic tool kit
- Chromosome anatomy
- Essential Concepts
- Chromosome nomenclature 1
- Chromosome nomenclature 2
- Meiosis
- Important knowledge and concepts
- Mendelian vs. chromosomal disorders
- A sense of perspective and scale
- Chromosome anomalies
- Low copy repeats
- Reciprocal deletion and duplication at 17p12
- 22q11 deletion syndrome
- AT rich repeats
- Chromosome analysis
- Fluorescence in situ hybridisation
- FISH to test for the recurrent 22q11.2 deletion
- Array comparative genome hybridisation
Topics Covered
- Normal and abnormal chromosome structure
- Balanced and unbalanced chromosomes
- ISCN chromosome nomenclature
- Chromosome imbalances and ‘genomic’ disorders
- Common chromosome rearrangements
- Methods of testing for chromosome disorders
Talk Citation
Holden, S. (2019, October 31). Chromosome disorders: chromosomes intro and tool-kit [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved October 13, 2024, from https://doi.org/10.69645/LMWD7157.Export Citation (RIS)
Publication History
Financial Disclosures
- Dr. Simon Holden has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
Chromosome disorders: chromosomes intro and tool-kit
Published on October 31, 2019
29 min
Other Talks in the Series: Introduction to Human Genetics and Genomics
Transcript
Please wait while the transcript is being prepared...
0:00
Hello, I'm Dr. Simon Holden.
I'm a consultant in clinical genetics in
the 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 of
chromosome analysis and how this relates to clinical practice,
then some of the more important clinical features of
these conditions that we can encounter in the clinic.
0:37
At the end of this lecture,
students should be familiar with the different types of chromosome disorders and
understand how they relate to other genomic disorders,
which we'll cover in other lectures;
be familiar with the nomenclature used to
describe the more common chromosome rearrangements;
understand how the behaviour of
chromosome 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.
1:09
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 sperm
have chromosome number anomalies known as aneuploidy.
This means that up to one to three conceptuses- so that's
recognized pregnancies- are trisomic or monosomic.