The mother of the boy (mentioned under question 28) inquires about the child's prognosis. She is worried if he can grow up and have children. What is the physicians response to the mother's concerns.
A 5 year old boy is brought to the office for evaluation. He is joyful in the office, but the mother gives history that his social, speech and motor development is inappropriate. In fact, he lost his speech at the age of 2 years. He has constant dribbling and often remains constipated. The mother says he had feeding problems during infancy and used to cry like meowing. He has strabismus and epicanthic folds. On auscultation, he has a pansystolic murmur. His IQ was tested and was found to be around 55. What is the most likely chromosomal alteration in this patient.
14 year old boy is brought to the Office with swelling of the right knee. The joint is extremely tender, and the boy walks with a limp. He has no fever or any history of trauma to the knee. Both his parents are healthy and fine. He gives history of his paternal uncle who had some eye surgery in childhood, but he passed away in his adolescent years. The X ray of the right knee shows spiculated pattern and bone lifting periosteum. Which of the following regulatory gene is responsible for the boy's knee lesion?
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