All are true about Fragile X syndrome except ?
Correct Answer: Large nose
Description: Ans. is 'b' i.e., Large nose Fragile - X syndrome o Fragile - X syndrome is the prototype of diseases in which the mutation is characterized by a long repeating sequence of three nucleotides. In fragile X syndrome,trinucleotide repeat mutation involve CGG on non coding region. o Clinical features of fragile - X syndrome Mental retardation Long face with large mandible q Hyperexntesible joint q Mitral valve prolapse Large eveed ears Large testis (macro-orchidism) q High arched palate o Fragile X syndrome is the second most common cause of mental retardation, after Downs syndrome.
Category:
Pathology
Get More
Subject Mock Tests
Practice with over 200,000 questions from various medical subjects and improve your knowledge.
Attempt a mock test nowMock Exam
Take an exam with 100 random questions selected from all subjects to test your knowledge.
Coming SoonGet More
Subject Mock Tests
Try practicing mock tests with over 200,000 questions from various medical subjects.
Attempt a mock test now