Abstract
Evidence is presented for the existence of a gene, probably on the X chromosome, which prevents testis differentiation when present in 46,XY human embryos. Affected 46,XY women are not completely normal because of premature ovarian involution, as a result of which they have "streak gonads" similiar to those of 45,X women.
Publication types
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Research Support, U.S. Gov't, P.H.S.
MeSH terms
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Disorders of Sex Development / embryology
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Disorders of Sex Development / genetics*
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Female
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Humans
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Karyotyping
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Male
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Ovary / embryology
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Pedigree
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Sex Chromosome Aberrations / embryology
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Testis / embryology
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Turner Syndrome / embryology
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Turner Syndrome / genetics*