Mosaic Variant of Turner Syndrome

ABSTRACT

Turner syndrome is the most common chromosomal abnormality leading to gonadal failure and primary amenorrhea. While half of the cases have monosomy of chromosome X, the remaining exhibit mosaicism resulting in wide variation of phenotypic characteristics and clinical manifestations. We present a case of a 24-year-old female with mosaic variant Turner syndrome. The diagnosis was confirmed by karyotype analysis and laparoscopy.