Emanuel B S, McDonald-McGinn D, Saitta S C, Zackai E H
University of Pennsylvania School of Medicine, and The Children's Hospital of Philadelphia, USA.
Adv Pediatr. 2001;48:39-73.
Estimates suggest that the 22q11.2 deletion occurs in approximately 1 in 4000 live births, making this disorder a significant health concern in the general population. The 22q11.2 deletion has been identified in the majority of patients with DiGeorge syndrome, velocardiofacial syndrome, and conotruncal anomaly face syndrome, suggesting that they are phenotypic variants of the same disorder. The findings associated with the 22q11.2 deletion are extensive and highly variable from patient to patient. In this chapter, we discuss the features of this disorder, with an emphasis on the clinical findings and an approach to the evaluation of these patients. In addition, we present the current understanding at the molecular level, of the genomic mechanisms and genes that are likely to play a central role in causing this frequent genetic condition.
据估计，22q11.2缺失在每4000例活产婴儿中约有1例发生，这使得这种疾病成为普通人群中一个重要的健康问题。大多数患有迪乔治综合征、腭心面综合征和圆锥动脉干异常面容综合征的患者都已被发现存在22q11.2缺失，这表明它们是同一疾病的表型变异。与22q11.2缺失相关的发现广泛，且患者之间差异很大。在本章中，我们将讨论这种疾病的特征，重点是临床发现以及对这些患者的评估方法。此外，我们还介绍了目前在分子水平上对基因组机制和基因的理解，这些机制和基因可能在导致这种常见遗传病中起核心作用。
