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Klinefelter's Syndrome (XXY Karyotype)

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47,XXY Syndrome (Klinefelter's)

47,XXY is a male chromosomal abnormality - with an addititonal X chromosome


Image © Kate Phizackerley 2009, all rights reserved

The condition affects betweee 1 in 500 and 1 in 1,000 men and often remains undetected until a man experiences problems with fathering children.

XXY Karyotype is not an Abnormality


XXY may be considered a chromosal abnormality but those people who are affected are not abnormal in any way.

Kleinfelter's Syndrome in a Nutshell

A short (2 minute) video with a whistle-stop introduction to Klinefelter's Syndrome and a 47,XXY male karyotype. (Click here to watch on YouTube.)

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Standard Human 46,XY Karyotype

This lens will help you understand the usual human complement of 46 chromosomes, with a final pair of either XX (usually) female or XY (usually) male.
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And if that doesn't make sense, then you may be better jumping straight to my Genetics 101 which has animated videos to help you understand the basics.

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XXY Karyotype

In summary, a 47,XXY karyotype is the normal male XY karyotype with the addition of an extra X sex chromosome.

Kleinfelter's Syndrome in Animation

I don't normally link to foreign language videos, but I've made an exception with this one as the animations within it are helpful.

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Klinefelter Symptoms - a Matter of Degree

The symptoms vary from person to person. The most common is infertility, perhaps combined with small testes. It may be possible to address this through drugs, particularly the prescription of testosterone. However, not every XXY individual will identify as male and testosterone may be inappropriate. It may also be possible to obtain spermatozoa by biopsy which can be used in IVF treatment.

Other symptoms can include gynecomastia, a tall gracile stature, or a rounded feminine body. Learning difficulties is a possible complication but is more usually associated with less common chromosomal abnormalities such as 48,XXYY. Similarly about 20% of those people with Klinefelter's Syndrome are mosaic, typically a combination of 47,XXY and 46,XY, and are lilley to have fewer symptoms, depending of the balance between XY and XXY. A mosaic condition is one in which some cells have one karyotype (eg 47,XXY) and other cells in the body have a different karyotype (eg 46,XY).

Mosaic 46,XX / 47,XXY is theoretically possible but extremely rare and is not considered to be Klinefelter's Syndrome.

Klinefelter's Syndrome and allied conditions are set out in section Q98 of the World Health Organisations ICD10 manual. (ICD stands for International Classification of Diseases.)

Klinefelter Literature

It's worth browsing carefully and reading the customer reviews. Some books are poor; some are very good. Some of the books are written for medical students or those with an academic background; some are written for anybody to understand but may have less technical detail. For that reason I'm not recommending anything in particular - even the five that are shown here, picked by Amazon, should just be the starting point for your browsing. For instance, a reader has left a comment (see below) saying that she found the 21st Century Ultimate Medical Guide to Klinefelter's Syndrome unhelpful.
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A site dedicated to 47,XXY Karyotype

XXY The Movie

This haunting 2007 movie has received considerable critical acclaim. It is an Argentinian film directed by Lucía Puenzo. The dialogue is Spanish with subtitles. It tells the story of Alex, an intersex teenager suffering from Kleinfelter's Syndrome and born with both male and female genitals (which is a rare version of the syndrome). She has been taking blockers (anti-androgens) to suppress the development of secondary male characteristics like a beard and a broken voice. It covers the story of her decision which gender she wishes to live in. I won't say any more here, but if you would like to know more about the plot, then read the Wikipedia article.

Here's the trailer. Mostly the scenes shown are from early in the movie. I found it quite a difficult movie - I'm quite empathic and these days I prefer to watch lighthearted movies. However, my reaction is probably a recognition that it is a quality movie rather than a cricticism of it.
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XXY Movie - The Director's View

This is what Lucía Puenzo said if the move at the New Directors/New Films series in New York City. What is quite remarkable is that this was her first feature film. It's an amazingly challenging project for a directorial debút.
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Buy the XXY Movie

XXY

XXY

Amazon Price: $9.99 (as of 02/15/2012)Buy Now

If you wish to see the full movie, here's a link to Amazon.

There are other sites with more information but they are associated with pharamceutical companies and I prefer not to promote such sites. If you are looking for a forum though, then XXYTalk has been highly recommended to me.

Save the Children

It is my personal policy not to make a profit out of lenses dealing with a medical condition. All of my own earnings from adverts shown alongside this lens will be donated by Squidoo directly to Save the Children. Remember however that Squidoo advertising income is pooled so if you click on an advert in this lens the proceeds will go to the pool, from which this lens will take a share. If you wish to donate directly to Save the Children, you should therefore please use the link below.

Thank you.

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Feedback

Please tell me what you think.

I am considering more lenses about chromosomal adnormalities and about intersex conditions more widely. Feedback about this lens would be helpful. Have I pitched the level of detail about right? Should I give more detail? Or maybe this lens moves too fast and is difficult to follow.

Please let me know.

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  • Reply
    PaulOnBooks Dec 21, 2010 @ 10:17 pm | delete
    "It is my personal policy not to make a profit out of lenses dealing with a medical condition." and Save The Children - my favourite charity.

    Very interesting and informative lens. There is a support group website at http://klinefeltersyndrome.org/ but I don't know how active they are.
  • Reply
    Chromosome Disorders Nov 12, 2010 @ 12:16 am | delete
    Chromosomes holds the genetic keys to all of the functions of body. Disorder of the human sex chromosomes is called Klinefelter syndrome, that occurs in males. Treatment are available such as testosterone replacement, fertility treatment, surgical treatment. Klinefelter syndrome is one of the most frequent chromosomal disorders in males, occurring in approximately 1 in every 500 to 1,000 males. Klinefelter syndrome means that men have karyotype XXY instead of the usual male karyotype XY. Owing to the chromosome Y, the fetus develops into a male.
    http://www.disorderscentral.com/
  • Reply
    CCGAL Oct 8, 2010 @ 9:30 pm | delete
    I'm personally interested in chromosomal abnormalities, in part because my son has XYY Syndrome (that's not a typo, it's not Klinefelter's). I was impressed to find anything of this depth on Squidoo. ***Angel Blessings***
  • Reply
    Kate-Phizackerley Oct 9, 2010 @ 10:40 am | delete
    I'm pleased you like it because they do take time to write. I need to write one about Marfans Syndrome - I need it for a lens about the Pharaoh Ankhenaten.
  • Reply
    Julia Dec 18, 2009 @ 12:30 am | delete
    Hi,
    Overall I think this is a very nice lens.
    Just to comment on that Amazon link '21st century ultimate guide'.
    I bought the product and it was not useful. More then half of the content was on cancer. I contacted the publisher (since there was no other name noted on the product) and never got the response. If you are interested in learning about Klinefelter, that product will definitely not help.
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Kate-Phizackerley

Off Squidoo I am a middle-aged woman with a wide range of interests from Ancient Egypt, backgammon, cookery ... to ... Zimbabwe which I visited 20 years... more »

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