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Absence of Turner stigmata in a 46,XYp-female (1992)

Müller, Ulrich ; Kirkels, Vincent G. H. J. ; Scheres, Jacques M. J.

Springer

Human genetics 〈Berlin〉 90 (1992), S. 239-242

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ISSN: 1432-1203

Source: Springer Online Journal Archives 1860-2000

Topics: Biology , Medicine

Notes: Abstract A 46,XY female patient with streak gonads and a large deletion of Yp is described. The deletion included the Y chromosomal genes SRY, ZFY, and RPS4Y. The patient did not display any Turner stigmata, such as webbing of the neck, cardiac or other abnormalities. The findings argue against an important role of RPS4Y in the prevention of Turner stigmata in males and are consistent with a role of SRY in testis differentiation in humans.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF00220069

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