An additional X chromosome in males (47,XXY)
leads to the clinical picture of Klinefelter syndrome
after puberty when untreated (1). This
includes tall stature, absent or decreased
development of male secondary sex characteristics,
and infertility due to absent spermatogenesis.
With an additional Y chromosome
(47,XYY) no unusual phenotype results (2). Girls
with three X chromosomes (47,XXX) are also
physically unremarkable (3). However, learning
disorders and delayed speech development
have been observed in some of these children.
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