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Diagnosis of Down’s syndrome in neonates
  1. D Hindley1,
  2. S Medakkar2
  1. 1Fairfield General Hospital, Bury BL9 7TD, Greater Manchester, UK
  2. 2Manchester University, UK
  1. Correspondence to:
    Dr Hindley, Fairfield General Hospital, Bury BL9 7TD, Greater Manchester, UK;
    dthindley{at}hotmail.com

Abstract

The results of karyotyping for Down’s syndrome in neonates were surveyed. From local data 36%, and from a national questionnaire, 32% of such samples were negative for Down’s syndrome. To examine this, a subset of notes was reviewed for documentation of clinical signs of Down’s syndrome. Some characteristics were often recorded, but other common discriminatory characteristics were noted less often or not at all.

  • Down’s syndrome
  • diagnosis
  • karyotyping
  • DSN, Down’s syndrome negative
  • DSP, Down’s syndrome positive

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