Prader-Willi syndrome

Patient's question:

10 August Beijing Women's and Children's Hospital, Yang Yanling, genetic test normal. Chromosome 15q11.2-q12 microdeletion

Doctor's answer:

If there are no obesity complications (diabetes, poor pulmonary ventilation), the lifespan is normal. Testosterone replacement therapy can be considered. The prognosis of this disease is poor, and it is necessary to strengthen premarital and prenatal eugenic guidance. A probe using a cloned fragment from the PBS key region can be used for prenatal diagnosis.

📌 Related Posts