Primary amenorrhea with Xq duplication.
Two female patients aged 16 and 17 years with Turner features short stature, amenorrhea and gonadal dysgenesis were referred for cytogenetic confirmation and counselling. Their karyotypes were 46, X, dup (X) (q13-->q22). The clinical and the cytogenetic picture have been correlated.
Rajangam
S
S
Division of Human Genetics, St. John's Medical College, Bangalore.
Lincoln
S
S
Tilak
P
P
Thomas
I M
IM
D000293:Adolescent; D000328:Adult; D000568:Amenorrhea / Q000175:diagnosis / Q000235:genetics*; D003241:Consanguinity; D003937:Diagnosis, Differential; D005260:Female; D020440:Gene Duplication; D006801:Humans; D007621:Karyotyping; D008297:Male; D014424:Turner Syndrome / Q000235:genetics*; D014960:X Chromosome