Turner Syndrome With Isochromosome Structural Abnormalities: A Case Report

Tahmina Ferdousi1, Hurjahan Banu1, Nusrat Sultana1

  • 1Department of Endocrinology, Bangabandhu Sheikh Mujib Medical University, Dhaka, BGD.

Cureus
|July 18, 2023
PubMed
Summary

Turner syndrome (TS) is a common cause of short stature. This study highlights rare variants, including isochromosome Xq and mosaic forms, which may present without classic symptoms, necessitating chromosomal analysis for accurate diagnosis in affected females.

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