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Thank you for publishing this. Awareness about these conditions is very low, especially considering that they affect 1 in 500 individuals.

The information is generally correct, but there is one important error. The extra X chromosome can come from either the father or the mother. Another important point is that 47,XXY is the condition and Klinefelter Syndrome is a suite of symptoms and comorbid conditions that often, but not always, accompany XXY. These variations are formally known as sex chromosome aneuploidy. Other variations include 47,XYY, Trisomy X and a broad spectrum of other variations including mosaics.

AAKSIS is an excellent resource. We have partnered with them for our annual conference for the past three years. You should know that KS&A is the world's oldest and largest organization dedicated to X and Y chromosome variations, including 47,XXY.

Jim Moore
Executive Director
KS&A
P.O. Box 461047
Aurora, CO 80046-1047
[email protected]
www.genetic.org
Toll-Free Helpline: 888-999-9428 (Denver/International: 303-400-9040)

February 7, 2012 - 6:55pm

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