Unique Case Reports Associated with Ovarian Failure: Necessity of Two Intact X Chromosomes

Table 1

Cytogenetic findings in 53 cases with abnormal X chromosome.

No of cases	Karyotype	Diagnosis	Clinical features
12	45,XO	Primary amenorrhea	Short stature, small ovaries, growth failure, facial dysmorphic features
12	46,XY female	Primary amenorrhea	Short stature, gonadal dysgenesis, ovaries not visualized
3	46,X.i(X)(q10; q10)	Primary amenorrhea	Low set ears, low hairline at the back of neck
4	mos 45,XO/46,X iso(Xq)	Primary and secondary amenorrhea	Short stature
3	mos 45,XO/47,XXX	Primary amenorrhea, POF	Failed extensive treatment
2	mos 45,XO/46,XO+mar	Primary amenorrhea	Short stature
1	mos 45,XO/47,XX+mar	Secondary amenorrhea	Short stature
2	mos 45,XO/46,X,r(X)(p22.3q28)	Primary amenorrhea	Short stature
3	mos 46,XX/47,XXX	Secondary amenorrhea, POF	Failed extensive treatment
3	mos 45,XO/46,XY	Primary amenorrhea	Short stature
1	46,XX del(q21-22) and q28	Secondary amenorrhea	BPES^†
2	46,Xdel(X)(q22>qter)	POF, secondary amenorrhea	Short stature
1	mos 45,XO/46,Xdel(Xp)	Primary amenorrhea	Short stature
1	mos 45,XO/46,Xdup(Xp)	POF	Failed extensive treatment
1	mos 45,XO/46,dup(Xq)	Primary amenorrhea	Short treatment
1	mos 45,XO/46,XX	Primary amenorrhea	Small ovaries
1	mos 45,XO/46,XX/47,XXX	Primary amenorrhea	Small ovaries
53

^†Blepharophimosis ptosis epicanthus inversus Syndrome.