Turner Syndrome With Isochromosome Structural Abnormalities: A Case Report

Turner syndrome (TS) is the most common cause of short stature and delayed puberty in females. Approximately half patients have classic form with a genotype 45,XO, one-fourth different mosaic forms, remaining structural abnormalities on X chromosome. Among abnormalities, isochromosome Xq. Females variants TS can present menarche, amenorrhea, infertility rather than manifestations TS. This study describes two rare One was abnormality chromosome, 46X,iso(Xq), other involves variety TS, including 45,XO/46X,iso(Xq). Both presented secondary amenorrhea without In or mosaicism, frequency isochromosomes reported to be about 15% 18%. Owing absence classical diagnosis may missed. Therefore, females should evaluated for by chromosomal analysis.