Absence of Turner stigmata in a 46,XYp-female.
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.
Müller
U
U
Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, MA 02115.
Kirkels
V G
VG
Scheres
J M
JM
D000328:Adult; D001483:Base Sequence; D004277:DNA, Single-Stranded; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D017353:Gene Deletion; D006059:Gonadal Dysgenesis / Q000235:genetics / Q000473:pathology; D006801:Humans; D007621:Karyotyping; D008297:Male; D008969:Molecular Sequence Data; D009687:Nuclear Proteins; D016133:Polymerase Chain Reaction; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D012733:Sex Differentiation / Q000235:genetics; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; D014424:Turner Syndrome / Q000235:genetics
D004277:DNA, Single-Stranded; D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors