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Klinefelter's syndrome diagnosis

Klinefelter’s syndrome is a chromosomal disorder where the affected individual has an extra X chromosome. The chromosomal constitution is therefore 47XXY instead of the usual 46XY. Because of the presence of the Y chromosome, the affected child in Klinefelter’s is always male.

Prenatal diagnosis of Klinefelter's syndrome

Prenatal diagnosis of this condition is the exception rather than the rule. However, if a diagnostic test is performed for any other reason, the diagnosis of Klinefelter’s will be established on mapping the chromosomal make-up.

Long-term prospects for a Klinefelter's syndrome baby

These individuals have fairly average prospects.

Physically, they attain normal height; they may even be taller than average. However, there is increased incidence of behavioral problems during adolescence.

They may also have mild learning difficulties.

Above-average breast development could pose a problem for a young man affected with Klinefelter’s syndrome. What is crucial to be aware is the fact that, compared to the average male, the risk of breast cancer is increased 20 times.

Maternal age as a risk factor for Klinefelter's syndrome

Neither maternal nor paternal age is a risk factor for Klinefelter’s syndrome. Klinefelter's is relatively common at 1 in 500. It is entirely possible for an affected individual to go through life unrecognized.