2010•DergiPark (Istanbul University)Requires access

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

Venkateshwari Ananthapur, Avvari Srilekha, Tella Sunitha, Akka Jyothy

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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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What this paper is about

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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Available 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.

Key concepts: Karyotype, Turner syndrome, Turner's syndrome, Gynecology, Biology, Medicine, Genetics, Chromosome

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