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Sex Chromosome Abnormalities

by Georgina Cornwall, PhD
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    What then are the most common sex chromosome aneuploidies? I thought we’d take a look at some of those. Although there are others, these ones are certainly the most common and actually come up fairly frequently. There are four conditions that we’ll consider here and compare in some detail. I won’t go into too, too much detail because it’s actually most important that you understand that all of these individuals are fairly normal in appearance. The only things that really show up, there are some. We’ll look at a table. But they’re mostly normal-appearing individuals. These individuals wouldn’t necessarily show up with a disorder as such until the puberty years when a female hasn’t reached the menstrual cycle by the age of sixteen or in reproductive years when a male perhaps is azoospermic. He doesn’t produce sperm or produces less sperm than is required for fertilization. The first syndrome is Klinefelter syndrome. It’s an XXY, so 47 chromosomes. There’s an extra X. It doesn’t turn out to be too much of a problem because the extra X gets made into a Barr body and it all works out fine. Then we could have a trisomy X, so an individual with three X chromosomes. Again, a little bit more of an issue because there’s extra stuff but two of them will become Barr bodies. We’ve talked about already the options for multiple nondisjunctions, nondisjunction in the sperm and nondisjunction in the egg. We could have a lot of extra X's. Then we consider 47, XYY. In 47, XYY, it used to be called the supermale because you’ve got extra Y chromosome. In general, individuals with the extra Y tended to be more angry. They did some prison studies and found out that a lot of these very angry individuals had XYY,...

    About the Lecture

    The lecture Sex Chromosome Abnormalities by Georgina Cornwall, PhD is from the course Chromosomal Disorders. It contains the following chapters:

    • Sex Chromosome Abnormalities
    • Incidence of sex Chromosome Abnormalities

    Included Quiz Questions

    1. 47, XXY
    2. 47, XXX
    3. 47, XYY
    4. 45, XO
    5. 45, YO
    1. 45, XO
    2. 47, XXY
    3. 47, XXX
    4. 47, XYY
    5. 45, YO
    1. Frequent in both males and females.
    2. Infrequent in both males and females.
    3. Frequent in males but infrequent in females.
    4. Frequent in .females but infrequent in males.
    5. Fr.equency of incidence has not been determined yet.
    1. Tall stature, hypogonadism, azoospermia, infertility
    2. Tall stature, hypotonia, cardiac abnormalities
    3. Tall stature, hypotonia, reduced fertility, premature ovarian failure
    4. Short stature, webbed neck, cardiac abnormalities, infertility
    5. Short stature, hypotonia, gonadal dysgenesis, azoospermia
    1. Tall stature, hypotonia, reduced fertility, premature ovarian failure
    2. Tall stature, hypogonadism, azoospermia, infertility
    3. Short stature, webbed neck, cardiac abnormalities, infertility
    4. Short stature, hypotonia, gonadal dysgenesis, azoospermia
    5. Tall stature, hypotonia, cardiac abnormalities
    1. Short stature, webbed neck, cardiac abnormalities, infertility
    2. Tall stature, hypotonia, reduced fertility, premature ovarian failure
    3. Tall stature, hypogonadism, azoospermia, infertility
    4. Tall stature, hypotonia, cardiac abnormalities
    5. Short stature, hypotonia, gonadal dysgenesis, azoospermia

    Author of lecture Sex Chromosome Abnormalities

     Georgina Cornwall, PhD

    Georgina Cornwall, PhD


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