45, X / 47, XXX / 46, XX karyotype in a female With Turner's Syndrome
2.344
Abstract
Turner's syndrome is a chromosomal abnormality in females associated with X chromosome aneuploidy, resulting in short stature, gonadal dysgenesis and various physical characteristics. Here, we describe clinical, cytogenetic and FISH analysis of a rare variant of Turner's syndrome with mosaicism for 45,X/ 47,XXX/46,XX.
Keywords
primary amenorrhea, Turners syndrome, mosaicism, Cytogenetic analysis , FISH.