45, X / 47, XXX / 46, XX karyotype in a female With Turner's Syndrome

A VENKATESHWARI, A SRILEKHA, T SUNITHA, A JYOTHY
10.637

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.