Arch Dis Child 1998;79:348-351 ( October )

A population study of chromosome 22q11 deletions in infancy

Judith Goodship,^a Ian Cross,^a Jesse LiLing,^a Christopher Wren^b

^a Northern Genetics Service, 19 Claremont Place, Newcastle upon Tyne NE2 4AA, UK, ^b Paediatric Cardiology Department, Freeman Hospital, Newcastle upon Tyne NE7 7DN, UK

Correspondence to: Dr Goodship.

Accepted 8 May 1998

AIMSTo determine the prevalence of submicroscopic deletions within chromosome band 22q11 in infants with significant heart disease and compare this with the prevalence of other chromosomal abnormalities causing significant heart disease. To determine a minimum prevalence of deletions within chromosome band 22q11 in infants in the general population.
METHODSChromosome analysis was performed on samples from infants born in the former UK Northern Health Region in 1994 and 1995 who either had significant heart disease or who were suspected to have a chromosome band 22q11 deletion following referral to the Northern Genetics Service. Significant heart disease was defined as major structural malformation or cases where invasive investigation or intervention was required in infancy.
RESULTSChromosome band 22q11 deletions were identified in nine infants in a population of 69 129 livebirths, giving a minimum prevalence of 13 per 100 000 (95% confidence interval 4.5 to 21.5). Six cases had significant heart disease, one of whom died before diagnosis. In the same population there were 53 cases of trisomy 21, 15 of whom had significant heart disease.
CONCLUSIONThe most common chromosomal cause of significant congenital heart disease remains trisomy 21, while the second most common chromosomal cause is deletion in chromosome band 22q11.

Keywords: chromosome 22q11 deletion; trisomy 21; prevalence; congenital heart disease

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© 1998 by Archives of Disease in Childhood
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