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

A VENKATESHWARI, A SRILEKHA, T SUNITHA, A JYOTHY
9.862

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.