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Dergiler / Journal of Pediatric Sciences / 2010 / Cilt: 2 - Sayı: 2

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

A VENKATESHWARI, A SRILEKHA, T SUNITHA, A JYOTHY

Sayfa
1–1
DOI
—

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.