Y chromosome specific DNA probe in the diagnosis of a patient with mos 45,X/46,XYnf.
In a patient with mos 45,X/46,XYnf, the diagnosis was confirmed with a Y chromosome-specific DNA probe, Y-190. The patient was a phenotypic female without Turner syndrome stigmata other than short stature. She showed some evidence of virilization and high serum testosterone. Her peripheral blood karyotype was mos 45,X/46X, +mar. Although this marker chromosome resembled a Y chromosome, there was no quinacrine bright region on its long arm. Southern blot analysis of her peripheral blood mononuclear cell DNA with Y-190 as a probe showed strong hybridization with this probe. Gonadectomy was performed, and bilateral gonadoblastomas were found.
Yorifuji
T
T
Momoi
T
T
Sonomura
T
T
Yamanaka
C
C
Kaji
M
M
Mikawa
H
H
Kitagawa
K
K
Ozasa
H
H
Tai
S
S
Mori
T
T
D000293:Adolescent; D015139:Blotting, Southern; D015342:DNA Probes; D005260:Female; D006801:Humans; D007564:Japan; D007621:Karyotyping; D009030:Mosaicism; D014424:Turner Syndrome / Q000175:diagnosis* / Q000235:genetics; D014998:Y Chromosome
D015342:DNA Probes