AMU Medical AMU Solved Paper-2005

  • question_answer
    Upon amniocentesis of a pregnant woman, it is found that the embryo contains both - Barr body and F - body. The syndrome likely to be associated with the embryo is

    A)  Edwards syndrome       

    B)  Downs syndrome

    C)   Klinefelters syndrome

    D)  Pataus syndrome

    Correct Answer: C

    Solution :

                     Klinefelters syndrome has sex complement XXY. It is produced by fusion of normal sperm (22 + Y) with egg having 2X (22 + XX) or normal egg (22 + X) with sperm having both chromosomes (22 + XY). The individuals are males with undeveloped testes. Occurrence of Barr body causes feminine secondary sex characters, (gynecomastea), small prostrate gland, long limbs with mental retardation. Edward syndrome is due to trisomy of 18th chromosome and characterized by malformed, receding chin and defective nervous system. Downs syndrome (Mongolian Idoiy) is due to trisomy of chromosome number 21. It was first reported in 1866 by Langdon Down. Both the chromosomes of the pair 21 pass into single cell. This syndrome is characterised by rounded face of broad free-head, small ears, feathered nasal bridge, open mouth, vertical fold epicanthus on either side of nose etc. Pataus syndrome is due to trisomy of 13 chromosome and characterised by defects of eyes, nose, lips and a holoprosencephaly with incomplete development of forebrain, olfactory and optic nerve. Polydactyl, narrow hyperconvex finger nails, skin defect.


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