Question

What condition is modeled by the expression 47, XXY? Explain what the model shows.

Answer 1

Klinefelter syndrome

Klinefelter syndrome (KS), also known as 47, XXY, is a syndrome where a male has an additional copy of the X chromosome. The primary features are infertility and small, poorly functioning testicles. Often, symptoms are subtle, and subjects do not realize they are affected.

It looks like this:

Causes: Two or more X chromosomes in males

Complications: Infertility, autoimmune disorders, breast cancer, venous thromboembolic disease, osteoporosis

Treatment: Physical therapy, speech and language therapy, counseling

Usual onset: At fertilization

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