Molecular analysis of 46,XY females and regional assignment of a new Y-chromosome-specific probe.
The relationship between Y-chromosome abnormalities and gonadal differentiation was investigated in six phenotypic females with a 46,XY karyotype and one patient with ambiguous genitalia secondary to apparently nonmosaic 46,XY mixed gonadal dysgenesis. No alterations were found in the Y chromosomes of six of these individuals by the use of either cytogenetic or molecular techniques. Cytogenetic analysis with high-resolution G-banding and Q-banding revealed a small deletion in the short arm of the Y chromosome in one female patient with some features of Turner syndrome. Southern hybridization with Y-specific probes showed a loss of DNA within deletion intervals 1, 2, and 3 of the Y chromosome. A new Y-chromosome-specific DNA probe that hybridizes to deletion interval 3 is described.
Cantrell
M A
MA
Department of Pathology, University of Washington, Seattle 98195.
Bicknell
J N
JN
Pagon
R A
RA
Page
D C
DC
Walker
D C
DC
Saal
H M
HM
Zinn
A B
AB
Disteche
C M
CM
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000328:Adult; D015139:Blotting, Southern; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D015342:DNA Probes; D005260:Female; D005819:Genetic Markers; D006059:Gonadal Dysgenesis / Q000235:genetics*; D006061:Gonadal Dysgenesis, 46,XY / Q000235:genetics*; D006060:Gonadal Dysgenesis, Mixed / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012150:Polymorphism, Restriction Fragment Length; D014998:Y Chromosome
D015342:DNA Probes; D005819:Genetic Markers