What is the Human Karyotype?

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Karyotype is a term in genetics.  It refers to the complement of chromosomes either at the species level, or of indivduals.  The normal human karyotype comprises 23 pairs of chromosomes, making 46 in total.  In humans - and indeed in mammals, the final pair varies between males (XY) and females (XX) as explained below.

At an individual level the complement of chromosome may vary from the standard.  Some of these genetic abnormalities may result in observable symptoms; some may be invisible.

Genetics 101

If you went to school some time ago, your classes may not have covered genetics in much detail. If you would like to learn some of the basic concepts, then this lens should help you as it has some really great material including videos.
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I'm quite fond of Genetics for Dummies but this title may be more fun - and good educational material should be fun. If you want a basic introduction to genetics, this is a book that you may wish to consider.

The Cartoon Guide to Genetics (Updated Edition)

Amazon Price: $8.89 (as of 02/16/2012)Buy Now

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Standard Human Karyotype

Normal Human Karyotype Chromosomes in PairsNormal Human Karyotype Chromosomes in Pairs - Photographic Print


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The poster illustrates the standard human karyotype really well. You can see 22 matched pairs. The final, 23rd, pair can be made up of either two X chromosomes or one X chromosome and one Y chromosome. Typically women have two X chromosomes; men have one X an one Y. Since we all acquired 23 chromosomes (ie one of each pair) from our mothers and another 23 from out fathers, every child will inherit an X chormosome from his/her mother but may inherit either an X or a Y chromosome from his/her father.

If the child inherits an X chromosome from her father she will have a typical human female karyotype - 46,XX. The number shows she has 46 chromosomes in total and the XX shows that the final pair is two Xs.

If a child inherits a Y chromosome from his father he will have a typical male karyotype - 47,XY.

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Human Karyotype Disorders

Although the standard human karyotype contains 46 chromosomes, it is possible for this to vary and for an individual to have 47 or even more chromosomes. Many people who have an individual karyotype which differs from the human norm may be unaware of the variation.
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