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Angelman Syndrome

by Georgina Cornwall, PhD
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    Angelman syndrome though is a completely different expression because it results from a microdeletion on the maternal chromosome. Let’s look at the schematic again. Both parents have both chromosomes. However, on the maternal chromosome, we see that the Angelman syndrome region, the red region is expressed. However, on the paternal chromosome, that region is imprinted, meaning that it is turned off and hypermethylated, so imprinting turned off. Now, if the maternal chromosome has a microdeletion that spans that region of chromosome 15, then she does not have the Angelman syndrome genes expressed or it does not have the Angelman gene syndrome expressed. Thus, the individual has no genes expressed in that Angelman syndrome region of chromosome 15 and they develop Angelman syndrome. Angelman syndrome is an image on the right side of the screen here of what an individual looks like and here are a few more. Let’s take a look at some of the phenotypic features of Angelman. Again, you’ll see they’re quite distinct from those that we see in Prader-Willi syndrome even though the deletion is in the same region of the gene. Angelman is one of the researchers that identified this gene. But prior to his time, this syndrome was known as the happy puppet syndrome. It might help you remember the symptoms of Angelman because these children tend to smile and giggle a lot. They’re ever so happy although fairly severely intellectually disabled. They also have pretty jerky movements as well as short stature and they often exhibit seizures. They don’t talk a whole lot. Often, there are developmental delays. The intellectual disabilities are much more severe than you see in Prader-Willi. Another feature is that they often have fairly widely-spaced teeth. But in general for me in remembering it, we have the happy puppet as...

    About the Lecture

    The lecture Angelman Syndrome by Georgina Cornwall, PhD is from the course Chromosomal Disorders.


    Included Quiz Questions

    1. A microdeletion in maternal chromosome 15
    2. A microdeletion in paternal chromosome 15
    3. A microdeletion in maternal chromosome X
    4. A microdeletion in maternal chromosome Y
    5. A microdeletion in paternal chromosome X
    1. Hyperphagia
    2. Microcephaly
    3. Short stature
    4. Frequent smiling
    5. Frequent laughing
    1. Hyperphagia
    2. Microcephaly
    3. Short stature
    4. Frequent smiling
    5. Frequent laughing
    1. Happy Puppet Syndrome
    2. Happy Feet Syndrome
    3. Hungry Puppet Syndrome
    4. Serious Food Syndrome
    5. Serious Puppet Syndrome
    1. Non-disjunction in meiosis I and trisomy rescue after fertilization with a normal sperm
    2. Non-disjunction in meiosis II and trisomy rescue after fertilization with a normal sperm
    3. Non-disjunction in meiosis II and trisomy rescue after fertilization with a sperm that does not contain that chromosome
    4. Non-disjunction in meiosis II and fertilization with a sperm that does not contain that chromosome
    5. Non-disjunction in meiosis I and trisomy rescue after fertilization with a sperm that does not contain that chromosome
    1. Two chromosomes are inherited from one parent and are exact copies of each other.
    2. Two chromosomes are inherited from one parent and are different from each other.
    3. Two chromosomes are inherited from both parents and are exact copies of each other.
    4. Two chromosomes are inherited from both parent and are not exact copies of each other.
    5. Two chromosomes are inherited from one parent and are similar but not exact copies of each other.

    Author of lecture Angelman Syndrome

     Georgina Cornwall, PhD

    Georgina Cornwall, PhD


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