Variant of Normal : 47 XXy Mosaic - Klinefelter’s Syndrome Explained

I was born with a chromosomal variation called Klinefelter’s Syndrome. What is XXy / Klinefelter’s Syndrome you ask?

There are 23 pairs of chromosomes found in each cell of the human body - each contain genes that determine our coloring, our features, and our sex.

Women inherit two X chromosomes -- one from each parent and are known as 46,XX (Female).

Men inherit an X chromosome from their mothers and a Y chromosome from their fathers – they are known as 46,XY (Male).

Some individuals, however, have an additional X chromosome in their chromosomal arrangement, referred to as 47,XXy, or more commonly, just XXy. The cause is unknown, yet XXy occurs in approximately 1 in every 500 to 1000 live male births, making it one of the most common chromosome variations. The XXy variation is identified in an individual through a Karyotype or a Buccal smear test.


What is a Mosaic?

This is another chromosomal variation of XXy where unlike the standard 47 XXy having 100% XXy Chromosomes in their body's cells, in a Mosaic, the XXy Chromosome does not occur in all body cells. (This is how some XXy people can have children and some cannot - also why some do not suffer from the same conditions as all XXy's and it makes it harder to detect.)

The proportion of normal to anomalous cells will determine the severity of the variation. A mosaic XXy would have some cell lines which are XY and some that are XXY or variant.

"Different degree of mosaicism: That is the percentage of cells in your body that have the extra chromosome. Even if or when a Doctor does a blood test and tells you that "100% of the cells tested are XXy", what they are REALLY saying is "ONLY the cells TESTED have XXy". They may have missed some cells without an X chromosome, and they DO NOT know if the cells in your brain, in your skin, in your gut etc. etc. all have XXy or not.

The concept of Mosaicism is that there are men with 100% XXy in all their cells, and some others that have a variable percentage. A 100% XXy person is sterile and cannot develop or produce sperm, while a Mosaic XXy can in some cases produce sperm and reproduce – There are no recorded cases of XXy being past along to an offspring by a Mosaic XXy father." [sic]

XXy people are NOT MALES, they are NOT FEMALES, they are “INTERSEXED People”.


What does Intersexed mean?

"Intersexuals are people born physically between the male and female genders with anatomy that is either ambiguous or comprised of varying degrees of both male and female anatomy. Intersexuality occurs in many forms. Some intersex people are born with chromosome arrangements other than XX or XY, including Klinefelter's Syndrome (XXy arrangement) and Turner's syndrome (XO arrangement). Some intersex people have ovotestis (Male born with ovaries) or one testical and one ovary. Intersex conditions sometimes do not become apparent until puberty, leading to a person having "normal"-appearing though grossly underdeveloped genitalia. "

- by Dr. Arturo Rolla, from the KS&A XXY+ADULTS email list, Feb. 28, 1999.

All counted, as many as one in 100 people have bodies differing from standard male or female!


As you can see, there is NOTHING wrong or Abnormal about being Intersexed – it’s a “Variant of Normal”… There is no one “normal” type of person or social role – there are only shades of grey, varying degrees of normalcy that separate us as individuals, yet strengthen us as a society… if only we’d realize and educate ourselves to the complete truth."

-Chloe Prince


After thought: "All I really want in life is for everyone to respect, honor and value the God given differences we all have as equals among one another."

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