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Accuracy of clinical diagnosis in Down’s syndrome
  1. S Sivakumar,
  2. S Larkins
  1. Neonatal Unit and Regional Cytogenetic Laboratory, Birmingham Women’s Hospital, Edgbaston, Birmingham B15 2TG, UK; s_siva_kumar@yahoo.com

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    Hindley and Medakkar1 showed that the clinical diagnosis of Down’s syndrome is inaccurate in one third of cases. We can imagine how stressful it will be for the parents if they have been told that their child may have Down’s syndrome and then subsequently karyotype proves to be normal. We conducted a retrospective study to estimate the accuracy of clinically suspicion in our region and in our hospital in particular.

    Using the regional cytogenetic laboratory database, all clinically suspected cases of Down’s syndrome born in the West Midland region during the period June 2000 to December 2002 were identified and karyotype …

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