Unique unbalanced X;X translocation (Xq22;p11.2) in a woman with primary amenorrhea but without Ullrich-Turner syndrome.
This is a report of a patient with delayed puberty and a previously unreported translocation 46,X -X, +der(X),t(X;X) (q22;p11.2) without any manifestations of Ullrich-Turner syndrome. The relationship of this unbalanced translocation to the critical region hypothesis is discussed.
Letterie
G S
GS
Department of Obstetrics and Gynecology, Virginia Mason Medical Center, Seattle, WA 98111, USA.
D000293:Adolescent; D000568:Amenorrhea / Q000150:complications / Q000235:genetics*; D002871:Chromosome Banding; D005260:Female; D006801:Humans; D007408:Intestinal Absorption; D014178:Translocation, Genetic; D014424:Turner Syndrome / Q000150:complications / Q000235:genetics*; D014960:X Chromosome