45, X / 47, XXX / 46, XX karyotype in a female With Turner's Syndrome
Venkateshwari Ananthapur, Avvari Srilekha, Tella Sunitha, Akka Jyothy
Abstract
Venkateshwari Ananthapur, Avvari Srilekha, Tella Sunitha, Akka Jyothy
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.
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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.
Key concepts: Karyotype, Turner syndrome, Turner's syndrome, Gynecology, Biology, Medicine, Genetics, Chromosome