A population study of chromosome 22q11 deletions in infancy
A population study of chromosome 22q11 deletions in infancy
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DOI：
10.1136/adc.79.4.348
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发表时间：
1998-10-01
影响因子：
5.2
通讯作者：
Wren, C
中科院分区：
文献类型：
--
作者：
Goodship, J;Cross, I;Wren, C
目的 - 确定患有严重心脏病的婴儿中染色体带 22q11 内亚显微缺失的患病率，并将其与导致严重心脏病的其他染色体异常的患病率进行比较。为了确定一般人群中婴儿中染色体带 22q11 缺失的最低发生率。方法 - 对 1994 年和 1995 年出生于前英国北部卫生区的婴儿样本进行染色体分析，这些婴儿要么患有严重的心脏病，要么在转诊到北方遗传学服务后怀疑患有染色体带 22q11 缺失。严重心脏病被定义为婴儿期出现重大结构畸形或需要进行侵入性检查或干预的病例。 结果 - 在 69 129 名活产婴儿中，发现 9 名婴儿存在染色体带 22q11 缺失，最低患病率为每 10 万人中 13 人（95% 置信区间为 4.5 至 21.5）。 6 例患有严重心脏病，其中 1 例在诊断前死亡。同一人群中有53例21三体，其中15例患有严重心脏病。结论 严重先天性心脏病最常见的染色体原因仍然是21三体，而第二常见的染色体原因是染色体带22q11缺失。
Aims-To 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.Methods-Chromosome 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.Results-Chromosome 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.Conclusion The 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.