Mosaicism for trisomy 21 and ring (21) in a male born to normal parents: A case report |
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Authors: | Ravindra M Samarth Puneet GandhiKewal K Maudar |
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Institution: | Department of Research in Medical Biotechnology, Bhopal Memorial Hospital & Research Centre (BMHRC), Raisen By-Pass Road, Bhopal-462038, India |
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Abstract: | We present a case of a ring (21) in a mentally challenged patient with mosaicism for trisomy 21 showing karyotype 47, XY,+21/47,XY,+21(r)/46,XY, born to normal parents. The parents and female sibling were phenotypically normal. This is a unique case report from Central India, on occurrence of trisomy 21 and r (21) in the same individual born to normal parents. Also being documented for the first time is the immuno-FISH analysis revealing differential expression of hTERT and a linked over expression of TRF2 in proband, probably corresponding to a high percentage of acrocentric associations. |
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