Answer to Question #277768 in Genetics for Pavan

Question

In a 39-year-old woman, the 5th pregnancy, which occurred with gestosis and the threat of

termination, ended in labor at 36 weeks. The newbom girl, with a body weight of 2700 g and a body

length of 48 cm, screamed immediately. On examination, there is swelling of the hands and feet, a short

Ticket Ni3

neck with excessive skin folds, and General muscle hypotension.

Questions: 1. Your diagnosis. Write the karyotype

2. Determine the type of mutation. Describe the mechanism of occurrence of this disease

3. What are the methods of diagnosis of this group of diseases?

Answer 1

46,XY karyotype