AIMS—To determine the prevalence of submicroscopicdeletions within chromosome band 22q11 in infants with significantheart disease and compare this with the prevalence of other chromosomalabnormalities causing significant heart disease. To determine a minimumprevalence of deletions within chromosome band 22q11 in infants in thegeneral population. METHODS—Chromosome analysis was performed onsamples from infants born in the former UK Northern Health Region in1994 and 1995 who either had significant heart disease or who weresuspected to have a chromosome band 22q11 deletion following referralto the Northern Genetics Service. Significant heart disease was defined as major structural malformation or cases where invasive investigation or intervention was required in infancy. RESULTS—Chromosome band 22q11 deletions wereidentified in nine infants in a population of 69 129 livebirths,giving a minimum prevalence of 13 per 100 000 (95% confidenceinterval 4.5 to 21.5). Six cases had significant heart disease, one ofwhom died before diagnosis. In the same population there were 53 casesof trisomy 21, 15 of whom had significant heart disease. CONCLUSION—The most common chromosomal cause ofsignificant congenital heart disease remains trisomy 21, while thesecond most common chromosomal cause is deletion in chromosome band 22q11.
展开▼
