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Printable Handouts
Navigable Slide Index
- Introduction
- Outline
- Unbalanced translocations
- Recurrent deletions/duplications
- Chromosome 22q11.2 deletion syndrome testing
- Targeted dosage analysis by FISH
- Database of genomic variants browser
- Duchenne muscular dystrophy
- Exon targeted dosage analysis
- Multiplex ligation probe amplification (MLPA)
- Genomic copy number analysis: microarray
- Microarray readout
- Diagnosis of recognizable syndromes
- Clinical interpretation of CNVs (1)
- Clinical interpretation of CNVs (2)
- Clinical reporting categories for CNVs
- Sources from the database of genomic variants
- DGV track information
- UCSC genome browser
- Novel recurrent susceptibility loci
- Database of genomic variants
- 1q21.1 deletions case - control studies
- 1q21.1 deletions
- Extremely rare CNVs
- 4/42,313 patients have CHD2 deletions
- Clinical features of patients with CHD2 deletion
- CHD2 mutations: epileptic encephalopathies
- Whole genome sequencing
- WGS versus clinical microarray
- Whole genome sequencing: process
- Read alignment view of sequence reads
- Identification of 27 bp deletion
- Identification of deletion by read depth analysis
- All clinically relevant CNVs detected by WGS
- 100 cases: clinical microarray vs. WGS
- Whole genome sequencing case examples
- WGS case 1: clinical features
- Pathogenic CNV identified
- Patient features vs. NRXN1 deletion syndrome
- ATP1A3 variant
- Previous reports of same variant in ATP1A3
- WGS case 2: clinical features
- Previous clinical genetic testing
- Case 2: whole genome sequencing
- Acknowledgements
Topics Covered
- Copy number variants (CNV)
- Brief history of hereditary genomic rearrangements and disease
- Methods of CNV detection
- Exon targeted dosage analysis
- Multiplex ligation probe amplification (MLPA)
- Microarray
- Criteria for the determination of CNV detection
- Clinical interpretation and reporting of CNVs
Links
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External Links
Talk Citation
Stavropoulos, D.J. (2021, July 28). Quantitative CNV testing in molecular diagnostics [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved December 3, 2024, from https://doi.org/10.69645/DJFQ9310.Export Citation (RIS)
Publication History
Financial Disclosures
- Prof. Dimitri J. Stavropoulos has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
A selection of talks on Genetics & Epigenetics
Transcript
Please wait while the transcript is being prepared...
0:00
My name is Dimitri Stavropoulos.
I'm a Clinical Lab Director at
the Hospital for Sick Children in the Genome Diagnostics Lab,
and Assistant Professor at the University of Toronto in
the Department of Laboratory Medicine and Pathobiology.
I'll be talking today about the "Quantitative CNV Testing in Molecular Diagnostics".
0:22
So the outline of this presentation is a brief review of copy number variants,
a brief history of hereditary genomic rearrangements and disease,
Overview of methods for copy number variant detection,
the criteria that we use to determine if a copy number variant
we identify in a patient is pathogenic or benign,
and a few case examples of the application of these criteria in practice.
0:47
I'll start by talking about
large-scale chromosome rearrangements that
we can typically detect by G-banding analysis.
This slide shows a balanced translocation
between chromosome 2 and chromosome 18 in the maternal chromosomes.
Chromosome 2 is colored in blue and chromosome 18 in orange.
You can see that a part of chromosome 2
is attached to the bottom of one of the chromosome 18s,
and a part of the chromosome 18 is attached to the top of one of the chromosome 2s.
This is a balanced in the parents,
so they don't have a phenotype.
They're apparently normal, but when they have a child,
they are at risk of passing on unbalanced complement of the chromosome 2 or 18 to the child,
which we see here as the proband.
As a result, the proband can have
congenital anomalies or neurodevelopmental abnormalities because they inherited
an extra copy of the part of chromosome 2
that's attached to chromosome 18 as a derivative 18 chromosome.
They also have a missing part at the end
of chromosome 18 from the derivative 18 chromosome.
I just show an example of the carrier type here.
When we identify a patient who has an unbalanced translocation,
we typically do analysis of the parents to see
if it originated from a balanced translocation.
If it has, the recurrence risk is typically about 20 percent.
We offer prenatal diagnosis in future pregnancies in these situations.