Gonadal dysgenesis due to isochromosome formation of long arm of X chromosome.
نویسندگان
چکیده
Isochromosome involving the long arm of X chromosome is a rare structural rearrangement of the X chromosome, leading to Gonadal dysgenesis. These patients present as phenotypic females with amenorrhea and growth failure. Often other associated features like endocrine abnormalities and skeletal deformities are found. They are chromatin positive cases and are only diagnosed by karyotyping. Hashimoto's thyroiditis is a rare association with isochromosome X.
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ورودعنوان ژورنال:
- The Journal of the Association of Physicians of India
دوره 61 4 شماره
صفحات -
تاریخ انتشار 2013