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
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.
Area of Science:
- Genetics
- Endocrinology
- Reproductive Medicine
Background:
- Turner syndrome (TS) is a chromosomal condition affecting females, typically characterized by short stature and delayed puberty.
- While the classic 45,XO karyotype accounts for half of cases, mosaic forms and structural X chromosome abnormalities are also prevalent.
- Isochromosome Xq is the most common structural abnormality, and variants can present with atypical symptoms like secondary amenorrhea.
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