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Letter
Mosaic Down’s syndrome prevalence in a complete population study
  1. L Devlin,
  2. P J Morrison
  1. Department of Medical Genetics, Belfast City Hospital, UK
  1. Correspondence to:
    Prof. P J Morrison
    Department of Medical Genetics, Belfast City Hospital, Lisburn Road, Belfast BT9 7AB, Northern Ireland, UK; patrick.morrisonbch.n-i.nhs.uk

https://doi.org/10.1136/adc.2003.031765

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    From 1 January 1997 to 31 December 2001 we performed a retrospective observational study on the incidence, accuracy of clinical diagnosis, and prevalence estimation of Down’s syndrome in a well defined population of 1.7 million in Northern Ireland.1

    A total of 208 postnatal cases of Down’s syndrome were diagnosed: 197 trisomy (94.7%), 3 translocation (1.45%), and 8 mosaic cases (3.85%) (expected ratios 94% trisomy, 5% translocation, 1% mosaic2). In a population of 114 307 live births, a minimum prevalence of 167.9 …

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