A4 year baby is having large face, large jaw, large ear and macro orchidism is –
Correct Answer: Fragile X syndrome
Description: Ans. is 'd' i.e., Fragile X syndrome 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. o Normally, a codon is triplet (trinucleotide). o In these type of disorders, this trinucleotide sequence undergoes amplification and the same sequence is repeated many times in the genome. o In most cases the affected equences share the nucleotide G and C. o Clinical features of fragile - X syndrome Mental retardation Hyperexntesible joint Long face with large mandible Large testis (macro-orchidism) High arched palate Mitral valve prolapse Large eveed ears
Category:
Pediatrics
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