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investigation of gonadal dysgenesis

ASSIGNMENT 2. CYTOGENETICS

Description: A 13 year old female was referred for investigation of gonadal dysgenesis, learning difficulty and developmental delay. FISH investigation showed the presence of XX and XY cell lines.

What other testing would you perform to confirm and distinguish this finding and why?
What is the likely explanation for this finding?
In your answer investigate the likely mechanisms of origin of this finding

Length: 2000 words +/- 10%

Estimated time to complete task: Up to 30 hours

Weight: 30%

 

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