A further 46,XYp- female.
A 24-year-old female with a Swyer syndrome phenotype was found to have a 46,X,del (Y) (p11) karyotype. This observation is consistent with the recently confirmed assignment of the testis-determining master gene to the deletion interval 1A of the Y (Page et al., 1987). Otherwise, it illustrates the etiological heterogeneity of the Swyer phenotype and allows to emphasize the de novo origin of XYp-females.
Rivera
H
H
División de Genética, Subjefatura de Investigación Científica, Hospital de Especialidades, Guadalajara, Mexico.
Moller
M
M
Baltazar
L M
LM
Escalante-Herrera
A
A
Garcia-Cruz
D
D
D002872:Chromosome Deletion; D012734:Disorders of Sex Development / Q000235:genetics*; D005260:Female; D006801:Humans; D012729:Sex Chromosome Aberrations; D014998:Y Chromosome / Q000648:ultrastructure*