Mosaic Variant of Turner Syndrome
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Date
2022-09
Journal Title
Journal ISSN
Volume Title
Publisher
IJCP Group
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.
Description
Keywords
Turner syndrome, amenorrhea, karyotype analysis, laparoscopy
Citation
Garg Archit, Kaur Parneet, Garg Rama, Gupta Anju, Renu. Mosaic Variant of Turner Syndrome. Indian Journal of Clinical Practice. 2022 Sep; 33(4): 28-31