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Printable Handouts
Navigable Slide Index
- Introduction
- Objectives
- What is epigenetics?
- Epigenetic regulation and genomic imprinting
- What is genomic imprinting
- Imprinted genes
- Imprinted genes in early development
- Cell type-specific epigenetic patterns
- Genomic organization of imprinted genes
- Imprinting center
- Imprinted domain 1 on chromosome 11p15.5
- Complexity of imprinted clusters
- Beckwith-Wiedemann syndrome (BWS)
- BWS: epidemiology
- BWS: clinical features
- BWS: complex, clinically heterogeneous disorder
- When do findings = diagnosis?
- Molecular basis of BWS
- Etiology of the BWS
- Molecular alterations associated with BWS
- Frequency of molecular alterations in BWS
- Does the molecular change make a difference?
- Clinical features and molecular etiology
- What are the risks to ART treated parents?
- Protection of marks during early development
- Subfertility/assisted reproductive technologies
- BWS molecular defects
- Multiple phenotypes associated with 11p15 UPD
- Somatic mosaicism
- Isolated hemihyperplasia
- High level constitutional UPD
- Sources of molecular testing strategies
- Laboratory testing for BWS
- MS-MLPA
- Expected methylation results from MS-MLPA
- MLPA molecular testing for BWS
- Example of a report
- Benefits of BWS molecular testing
- Cancer risk & surveillance
- Prenatal testing options
- Current Challenges in BWS molecular testing
- Duplications and deletions in 11p15.5
- Frequency of CNVs according to methylation
- Challenges in MS-MLPA and microarray tests
- BWS molecular diagnosis case
- Molecular diagnosis results
- Explaining the misclassification
- Monozygotic twins and BWS
- Recommendations for monozygotic twins
- Isolated hemihyperplasia
- Molecular testing and isolated hemihyperplasia
- 11p15 molecular testing (mosaicism)
- 11p15 molecular testing (asymmetry)
- Opposite imprinting alterations on 11p15
- Russell-Silver syndrome (RSS)
- Chromosomal regions associated with RSS
- BWS case with a history of IUGR
- Targeted assays of multiple imprinted loci-BWS
- Different combinations of epigenetic alterations
- Questions by a pregnant woman with BWS
- Pregnant woman molecular testing
- Imprint deregulation causing disease in humans
- Answers to referral questions
- Pregnant woman follow-up
- Acknowledgments
Topics Covered
- What is epigenetics?
- Epigenetic regulation forms the molecular basis for genomic imprinting
- What is genomic imprinting
- Imprinted genes in early development
- Genomic organization of imprinted genes
- Imprinting center
- Imprinted domain 1 on chromosome 11p15.5
- Complexity of imprinted clusters
- Beckwith-Wiedemann syndrome (BWS)
- BWS: a complex, clinically heterogeneous disorder
- Molecular basis of BWS
- Etiology of the Beckwith-Wiedemann syndrome
- Molecular alterations associated with BWS
- Frequency of molecular alterations in BWS
- The risks to subfertile/ART treated parents
- Subfertility/assisted reproductive technologies (ART)
- BWS molecular defects
- Multiple phenotypes associated with somatic mosaicism for 11p15 UPD
- Somatic mosaicism
- Isolated hemihyperplasia
- High level constitutional UPD
- BWS molecular testing strategies
- Laboratory testing for BWS
- MS-MLPA
- Expected methylation results from MS-MLPA
- MLPA molecular testing for BWS
- Cancer risk & surveillance
- Prenatal testing options
- Current challenges in BWS molecular testing
- Frequency of CNVs according to methylation pattern
- Monozygotic twins and BWS
- Isolated hemihyperplasia
- Current challenges in chromosome 11p15 molecular testing
- Russell-Silver syndrome (RSS
- Chromosomal regions associated with RSS
- Targeted assays of multiple imprinted loci-BWS
- Different combinations of epigenetic alterations associated with variations in clinical phenotype
- Imprint deregulation causing disease in humans
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Talk Citation
Weksberg, R. (2014, September 3). Imprinting disorders associated with molecular changes on chromosome 11p15 [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved December 5, 2019, from https://hstalks.com/bs/2901/.Publication History
Financial Disclosures
- Prof. Rosanna Weksberg has not informed HSTalks of any commercial/financial relationship that it is appropriate to disclose.
Imprinting disorders associated with molecular changes on chromosome 11p15
Published on September 3, 2014
37 min
Other Talks in the Series: Molecular Genetics of Human Disease
Transcript
0:00
So my
name is Rosanna Weksberg.
I'm a Clinical Geneticist at
the Hospital for Sick Children
and the University of
Toronto in Toronto, Canada.
And I'm going to be talking about
imprinting disorders associated
with molecular changes
on chromosome 11p15.
0:20
The objectives of the talk are
to review the general concepts
of genomic imprinting
and epigenetics,
to identify alterations
in imprinted genes
on chromosome 11 associated
with two human disorders--
Beckwith-Wiedemann syndrome
and Russell-Silver syndrome,
to review current molecular
testing for these conditions,
and to review challenges
in the management
and counseling for these
conditions as well.
0:50
What is epigenetics?
Epigenetic modifications can
change gene expression patterns
without changing primary
nucleotide sequence.
These include mechanisms such
as DNA methylation, which
is what the focus of
this talk will be,
as well as chromatin conformation,
histone modifications,
and RNA silencing.
1:15
Epigenetic regulation
forms the molecular basis
for genomic imprinting.
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