[A molecular analysis of females with 46,XY or 47, XYY karyotype].
In this paper, 4 females of 46,XY and one of 47,XYY karyotype were studied by Southern blotting using 10 Y-DNA probes. The results showed that 3 cases of 46,XY and the one 47,XYY had not lost any Y-specific fragment, while one 46, XY had lost a 15 kb Y-specific fragment, as detected by pDP34. The cause of these 46,XY and 47,XYY karyotypes could not be explained by the theory of X-Y unequal exchange in meiosis. It was postulated that an alternative genetic mechanism, such as gene mutation or defective gonad receptor, might be related to sex reversion in these patients.
Shan
X
X
Nanjing Railway Medical College.
D000328:Adult; D015139:Blotting, Southern; D015342:DNA Probes; D012734:Disorders of Sex Development; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics*; D006060:Gonadal Dysgenesis, Mixed / Q000235:genetics*; D006801:Humans
D015342:DNA Probes