Rope Alan F, Cragun Deborah L, Saal Howard M, Hopkin Robert J
Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, Salt Lake City, UT, USA.
J Pediatr. 2009 Oct;155(4):560-5. doi: 10.1016/j.jpeds.2009.04.010.
To test the hypothesis that the prevalence of deletion 22q11.2 among individuals who meet criteria for DiGeorge anomaly (DGA) is lower than the 90% commonly cited.
Participants were identified through retrospective chart reviews on all patients who underwent testing for deletion 22q11.2 and all patients with a diagnosis of "DiGeorge" or any of the major criteria associated with DGA at a large pediatric hospital over a period of 6 years. DGA was confirmed in 64 individuals, based on the presence of at least 2 of the following features: (1) cellular immune deficiency and/or absence of part or all of the thymus; (2) hypocalcemia and/or parathyroid deficiency; (3) congenital heart disease.
Of the 64 individuals with DGA, 29 (45%) did not have a chromosome 22q11.2 deletion. Among this deletion-negative subset, diabetic embryopathy and other chromosome abnormalities were the most commonly recognized underlying etiologies.
These findings challenge a widely held belief that nearly 90% of DGA is due to chromosome 22q11.2 deletion. This study also calls attention to the heterogeneity of DGA, highlights similarities and differences between those with and without a chromosome 22q11.2 deletion, and attempts to resolve some confusing features of conditions associated with DGA.
检验以下假设，即符合迪格奥尔格异常（DGA）标准的个体中22q11.2缺失的发生率低于普遍引用的90%。
通过对一家大型儿科医院6年间所有接受22q11.2缺失检测的患者以及所有诊断为“迪格奥尔格”或与DGA相关的任何主要标准的患者进行回顾性病历审查来确定参与者。基于以下至少2种特征的存在，64名个体被确诊为DGA：（1）细胞免疫缺陷和/或部分或全部胸腺缺失；（2）低钙血症和/或甲状旁腺功能减退；（3）先天性心脏病。
在64名DGA个体中，29名（45%）没有22号染色体q11.2缺失。在这个缺失阴性亚组中，糖尿病胚胎病和其他染色体异常是最常见的潜在病因。
这些发现挑战了一个广泛持有的观点，即近90%的DGA是由22号染色体q11.2缺失引起的。这项研究还提请注意DGA的异质性，突出了有和没有22号染色体q11.2缺失的个体之间的异同，并试图解决与DGA相关病症的一些混淆特征。
