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A clinician, during the ultrasound of a pregnant lady found that the lady had multiple fracture of in her fetus. She did not report any trauma. Later a genetic abnormality was identified to cause this due to the non-formation of collagen in the fetus as the mutation replaced glycine to serine in collagen. The name of this syndrome is
  • a)
    Collagenopsis    
  • b)
    Collegeniosis
  • c)
    Osteogenesis imperfecta       
  • d)
    Osteomalacia
Correct answer is option 'C'. Can you explain this answer?
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A clinician, during the ultrasound of a pregnant lady found that the l...
Osteogenesis imperfecta is also known as brittle bone disease. Most of the mutations that cause osteogenesis imperfecta type I occur in the COL1A1 gene. This gene encodes major component of type 1 collagen. Therefore in this disease, there is a problem with connective tissue due to lack of type 1 collagen. Glycine is the most abundant amino acid in collagen and this genetic change replaces glycine to serine, thereby reducing the amount of type I collagen produced in the body, which causes bones to be brittle and to fracture easily.
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A clinician, during the ultrasound of a pregnant lady found that the lady had multiple fracture of in her fetus. She did not report any trauma. Later a genetic abnormality was identified to cause this due to the non-formation of collagen in the fetus as the mutation replaced glycine to serine in collagen. The name of this syndrome isa)Collagenopsis b)Collegeniosisc)Osteogenesis imperfecta d)OsteomalaciaCorrect answer is option 'C'. Can you explain this answer?
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A clinician, during the ultrasound of a pregnant lady found that the lady had multiple fracture of in her fetus. She did not report any trauma. Later a genetic abnormality was identified to cause this due to the non-formation of collagen in the fetus as the mutation replaced glycine to serine in collagen. The name of this syndrome isa)Collagenopsis b)Collegeniosisc)Osteogenesis imperfecta d)OsteomalaciaCorrect answer is option 'C'. Can you explain this answer? for IIT JAM 2024 is part of IIT JAM preparation. The Question and answers have been prepared according to the IIT JAM exam syllabus. Information about A clinician, during the ultrasound of a pregnant lady found that the lady had multiple fracture of in her fetus. She did not report any trauma. Later a genetic abnormality was identified to cause this due to the non-formation of collagen in the fetus as the mutation replaced glycine to serine in collagen. The name of this syndrome isa)Collagenopsis b)Collegeniosisc)Osteogenesis imperfecta d)OsteomalaciaCorrect answer is option 'C'. Can you explain this answer? covers all topics & solutions for IIT JAM 2024 Exam. Find important definitions, questions, meanings, examples, exercises and tests below for A clinician, during the ultrasound of a pregnant lady found that the lady had multiple fracture of in her fetus. She did not report any trauma. Later a genetic abnormality was identified to cause this due to the non-formation of collagen in the fetus as the mutation replaced glycine to serine in collagen. The name of this syndrome isa)Collagenopsis b)Collegeniosisc)Osteogenesis imperfecta d)OsteomalaciaCorrect answer is option 'C'. Can you explain this answer?.
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