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- (Special Topic)
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- 21-hydroxylase deficiency (see: Congenital adrenal hyperplasia)(Condition)
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- 47 X-X-Y syndrome (see: Klinefelter syndrome)(Condition)
- 47 XXY syndrome (see: Klinefelter syndrome)(Condition)
- 47,XXY/46,XY (see: Klinefelter syndrome)(Condition)
- 47,XXY/46,XY mosaicism (see: Klinefelter syndrome)(Condition)
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- 5p minus syndrome (see: Cri du chat syndrome)(Condition)
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- 7q11.23 deletion syndrome (see: Williams syndrome)(Condition)