Journal
SEXUAL DEVELOPMENT
Volume 1, Issue 2, Pages 111-113Publisher
KARGER
DOI: 10.1159/000100032
Keywords
duplication 1p; RSPO1; sex reversal; WNT4
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Some studies suggest that WNT4 signaling acts to repress the male pathway and a single case of duplication of WNT4 located in 1p35 has been associated with ambiguous genitalia. Recently, RSPO1 located in 1p34.3 was shown to be essential in sex determination. We show that neither WNT4 nor RSPO1 are duplicated in another case of male-to-female sex reversal with partial duplication of 1p. Therefore, it can be assumed that in male-to-female sex reversal associated with duplication of 1p, other genetic factors may be involved. Copyright (c) 2007 S. Karger AG, Basel.
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