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Clin Genet. 1997 Feb;51(2):124-6.

Detection of SRY in 45,X/47,XYY mosaicism leading to phenotypic female.

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Department of Obstetrics and Gynecology, Gifu University School of Medicine, Japan.


SRY on the Y chromosome initiates male sex determination. We tested a phenotypic female with sex chromosome mosaicism, X/XYY, for SRY expression. SRY was determined by polymerase chain reaction (PCR) amplification in genomic DNA from a female patient with a sex chromosome mosaic complement, 45,X/47,XYY, followed by sequencing analyses. The patient yielded the PCR product with predicted size and homology to the consensus sequence of SRY. The demonstration of SRY provides evidence that the female phenotype in the presence of sex chromosome mosaicism, X/XYY, may result from alterations in another part of the sex-determining pathway or downstream from SRY.

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