A Rare Case of Mosaic Turner Syndrome

Title: A Rare Case of Mosaic Turner Syndrome

Authors: Satyakumari.D, Seshukumari.G, Pothulurayya Chary.K, Keerthi.U, S.S.K.R.Bhimeswararao, R.R.Ramya, Kondalarao.D, Jagadeesh.M

DOI: https://dx.doi.org/10.18535/jmscr/v8i2.101

Abstract

Turner syndrome is a genetic disorder in which a female is partly or completely missing an X chromosome. Turner syndrome affects one in 2,000 to 5,000 female live births. Henry Turner first described the condition in 1938.In 1964, it was determined due to chromosomal abnormality. The chromosomal abnormality may be present in just some cells in which case it is known as Turner Syndrome with Mosaicism. In these cases, the symptoms are usually fewer or none occur at all. The diagnosis based on physical signs and genetic testing.

Keywords: Turner syndrome, Genetic disorder, Mosaicism, X-chromosome, genetic testing, Female sex.

References

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Guttenbach M, Koschorz B, Bernthaler U, Grimm T & Schmid M. Sex chromosome loss and aging: in situ hybridization studies on human interphase nuclei. American Journal of Human Genetics1995 57 1143–1150.

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