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Detection of SRY in 45, X/47, XYY mosaicism leading to phenotypic female
Author(s) -
Imai Atsushi,
Horibe Shinji,
Fuseya Tatsuo,
Takagi Hiroshi,
Takagi Atsushi,
Tamaya Teruhiko
Publication year - 1997
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1997.tb02434.x
Subject(s) - testis determining factor , y chromosome , biology , genetics , pseudoautosomal region , x chromosome , polymerase chain reaction , chromosome , sex reversal , phenotype , microbiology and biotechnology , gene
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.