Mosaic Down's syndrome prevalence in a complete population study

Open Access

1 December 2004

journal article
letter
Published by BMJ in Archives of Disease in Childhood

Vol. 89 (12) , 1177-1178
https://doi.org/10.1136/adc.2003.031765

Abstract

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 per 100 000 (or 1 in 595 births) was calculated.

Keywords

DOWN SYNDROME
DIAGNOSIS ACCURACY
PREVALENCE

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